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2.
Article in Chinese | WPRIM | ID: wpr-928394

ABSTRACT

OBJECTIVE@#To analyze the clinical phenotype and genetic basis for a male neonate featuring hypoparathyroidism, sensorineural hearing loss, and renal dysplasia (HDR) syndrome.@*METHODS@#The child was subjected to genome-wide copy number variation (CNVs) analysis and whole exome sequencing (WES). Clinical data of the patient was analyzed. A literature review was also carried out.@*RESULTS@#The patient, a male neonate, had presented with peculiar facial appearance, simian crease and sacrococcygeal mass. Blood test revealed hypocalcemia, hypoparathyroidism. Hearing test suggested bilateral sensorineural deafness. Doppler ultrasound showed absence of right kidney. Copy number variation sequencing revealed a 12.71 Mb deletion at 10p15.3-p13 (chr10: 105 001_12 815 001) region. WES confirmed haploinsufficiency of the GATA3 gene. With supplement of calcium and vitamin D, the condition of the child has improved.@*CONCLUSION@#The deletion of 10p15.3p13 probably underlay the HDR syndrome in this patient.


Subject(s)
DNA Copy Number Variations , Hearing Loss, Sensorineural/genetics , Humans , Hypoparathyroidism/genetics , Infant, Newborn , Kidney/abnormalities , Male , Syndrome , Urogenital Abnormalities/genetics
3.
Rev. cuba. med. mil ; 49(4): e603, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1156524

ABSTRACT

Introducción: La linfangiectasia renal es una afección infrecuente en la que existe dilatación de los vasos linfáticos renales. Usualmente es bilateral y de buen pronóstico. Objetivos: Presentar un caso de linfangiectasia renal bilateral, sus características clínicas y aspectos del diagnóstico imaginológico. Caso clínico: Paciente femenina de 59 años de edad, hipertensa controlada, que asistió a la consulta externa de urología por dolor lumbar bilateral, de moderada intensidad y coloración rojiza de la orina, ambos de forma intermitente. El examen físico general y regional fue negativo. Se confirmó microhematuria en el examen general de la orina. Los estudios de la analítica sanguínea fueron normales. El ultrasonido renal reportó pielocaliectasia bilateral moderada y quistes parapiélicos, bilaterales, a predominio izquierdo. La tomografía axial computarizada renal contrastada, reveló la presencia de formaciones hipodensas renales bilaterales, de aspecto quístico parapiélicas y en el seno renal, compatibles con linfangiectasia bilateral. La paciente ha evolucionado favorablemente. Conclusiones: La linfangiectasia renal se debe tener en cuenta en el diagnóstico deferencial de la enfermedad quística renal. Para el diagnóstico imaginológico de certeza es esencial la tomografía axial computarizada renal contrastada(AU)


Introduction: The renal linfangiectasia is an uncommon, in which dilatation of the lymphatic renal vessels exists. It is usually bilateral and of good presage. Objectives: To present a case of renal bilateral lymphangiectasia, their clinical characteristics and aspects of the imaginologic diagnosis. Clinical case: Patient feminine of 59 years of age, with controlled hypertension that attended the external consultation of Urology for lumbar bilateral pain, of moderate intensity, and reddish coloration of the urine, both in an intermittent way. The general and regional physical exam was negative. Microhematuria was confirmed in the general exam of the urine. The sanguine studies of the analytic one were all normal ones. The renal ultrasound reported bilateral moderate pielocaliectasia and parapielic cysts, with left prevalence. The renal contrasted computed tomography revealed the presence of bilateral renal hipodenses formations, of aspect cystic parapielic and in the renal sinus, and compatible with bilateral linfangiectasia. The patient has evolved favorably. Conclusions: The renal linfangiectasia it should be kept in mind in the deferential diagnosis of the cystic renal illness. For the imaginologic diagnostic of certainty it is essential the renal contrasted computed tomography(AU)


Subject(s)
Humans , Female , Middle Aged , Congenital Abnormalities , Tomography, X-Ray Computed/methods , Kidney/abnormalities , Lymphangiectasis/diagnostic imaging , Lymphangioma/diagnosis
4.
Rev. cuba. pediatr ; 92(4): e977, oct.-dic. 2020. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1144516

ABSTRACT

Introducción: Las malformaciones congénitas del riñón y del tracto urinario representan entre 20 y 30 por ciento de todas las malformaciones reconocidas en humanos. Objetivo: Identificar los antecedentes patológicos familiares y las enfermedades durante el embarazo asociados a la aparición de defectos congénitos renales. Métodos: Estudio descriptivo prospectivo transversal realizado en 672 niños nacidos entre julio de 2014 y junio de 2015 en Santa Clara, con ultrasonido prenatal normal. A todos los niños durante la consulta médica se les hizo examen físico detallado y previo consentimiento informado del familiar acompañante, se aplicó a estos una encuesta y se registraron variables epidemiológicas, antecedentes familiares de enfermedades renales, morbilidad de la madre durante el embarazo y se realizó un ultrasonido renal para identificar las alteraciones sonográficas sugerentes de algún tipo de anomalías del desarrollo renal. Resultados: En 40 (5,95 por ciento) pacientes se detectó alteración sonográfica. El 27,50 por ciento eran hijos de madres que presentaron alguna enfermedad durante el embarazo. La glucemia elevada afectó 10 por ciento de las madres de los niños con anomalías del desarrollo renal, seguida del bajo peso materno (7,5 por ciento). El hecho de presentar antecedente patológico familiar de enfermedad renal aportó un riesgo de 1,88 y en las de tipo obstructivo el riesgo fue de 5,08. Conclusiones: Las alteraciones sonográficas sugestivas de malformación congénita renal son más frecuentes en los lactantes cuyas madres presentaron concentraciones elevadas de glucosa y bajo peso durante el embarazo. Los niños con antecedentes familiares de malformación renal tienen mayor riesgo de presentar una anomalía del desarrollo renal(AU)


Introduction: Kidney and urinary tract´s malformations represent among 20 and 30 percent of all malformations known in humans. Objective: To identify during pregnancy family pathological history and diseases associated to the onset of renal congenital malformations. Methods: Prospective, descriptive, cross-sectional study carried out to 672 children with normal prenatal ultrasound whom were born from July, 2014 to June 2015 in Santa Clara province. All children during the medical consultation had a detailed physical examination and previous informed concent; it was applied also a survey and the epidemiologic variables, family history of renal diseases, morbility of the mother during pregnancy were recorded, and it was made a renal ultrasound to identify sonographic alterations suggesting any kind of anomaly in the renal development. Results: In 40 patients (5,95 percent), it was detected any sonographic alteration. 27,50 percent were children of mothers that presented any disease during pregnancy. High glycemia affected the 10 percent of mothers of children with anomalies in the renal development, followed by low maternal weight (7,5 percent). The fact of presenting a family pathological history of renal disease implied a risk of 1,88 percent and the risk was of 5,08 percent in the obstructive kind of diseases. Conlusions: Sonographic alterations suggesting renal congenital malformations are more frequent in newborns whose mothers had high concentrations of glycemia and low weight during pregnancy. Children with family history of renal malformations have higher risk of presenting an anomaly of the renal development(AU)


Subject(s)
Humans , Male , Female , Infant , Congenital Abnormalities/diagnosis , Renal Insufficiency, Chronic/etiology , Kidney/abnormalities , Urinary Tract/abnormalities , Epidemiology, Descriptive , Cross-Sectional Studies , Prospective Studies
5.
Rev. cuba. pediatr ; 92(3): e976, jul.-set. 2020. graf
Article in Spanish | LILACS, CUMED | ID: biblio-1126769

ABSTRACT

Introducción: Las malformaciones congénitas renales y de las vías urinarias, constituyen la causa más frecuente de la enfermedad renal crónica en niños menores de 5 años. La ultrasonografía renal, se contempla en la actualidad, en el estudio inicial ante la sospecha de enfermedad renal crónica secundaria a malformaciones congénitas renales y de vías urinarias. Objetivo: Identificar los hallazgos sonográficos sugestivos de anomalías renales en los primeros seis meses de vida. Métodos: Estudio descriptivo transversal en niños nacidos entre julio de 2014 y junio de 2015 en el municipio de Santa Clara, con ultrasonido renal prenatal normal. A los 672 niños estudiados, previo consentimiento informado, se les realizó ultrasonido renal en algún momento dentro de los seis primeros meses de vida, lo que permitió identificar a los niños con alteraciones sonográficas sugerentes de algún tipo de anomalías del desarrollo renal. Se continuaron los estudios, según protocolos establecidos, para definir el tipo de malformación congénita renal y de vías urinarias. Resultados: El 5,95 por ciento (40 pacientes) presentaron alguna alteración sonográfica. La hidronefrosis se identificó en el 27,50 por ciento. La ectopia renal y la asimetría renal estuvieron presentes en el 15,00 por ciento de los pacientes. El 10,00 por ciento presentó agenesia renal. El 22, 5 por ciento de los pacientes con hidronefrosis tenían reflujo vesicoureteral. Conclusiones: La hidronefrosis constituye una alteración sonográfica frecuente en pacientes con malformaciones congénitas renales, sobre todo del tipo de reflujo vesicoureteral. Dentro de las alteraciones de tamaño, posición y forma, la ectopia renal constituye la anomalía del desarrollo renal más frecuente(AU)


Introduction: Renal congenital and urinary tract´s malformations represent the most frequent cause of chronical kidney disease in children under five years old. The renal ultrasound it is nowadays included in the initial study while suspecting chronical kidney disease as a consequence of renal congenital and urinary tract´s malformations. Objective: To identify sonographic findings that suggest renal anomalies in the first six months of life. Methods: Descriptive cross-sectional study in children that were born from July, 2014 to June, 2015 in Santa Clara municipality having a normal prenatal renal ultrasound. The 672 children studied with previous informed consent had a renal ultrasound in the first six months of life which allowed to identify the children with sonographic alterations suggestive to any kind of renal development´s anomalies. The studies were conducted under the established protocols to define the kind of renal congenital and urinary tract´s malformation. Results: 5.5 percent (40 patients) presented any kind of sonographic alteration. Hydronephrosis was identified in 27.50 percent of the patients. Renal ectopy and renal asymmetry were present in the 15.00 percent of the patients. 10.00 percent presented renal agenesis. 22.5 percent of the patients with hydronephrosis had vesicoureteral reflux. Conclusions: Hydronephrosis represents a frequent sonographic alteration in patients with congenital renal malformations, mostly the vesicoureteral reflux type. Among the size, position and shape alterations, renal ectopy is the most frequent renal development´s anomaly(AU)


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Renal Insufficiency, Chronic/complications , Renal Insufficiency, Chronic/diagnostic imaging , Kidney/abnormalities , Epidemiology, Descriptive , Cross-Sectional Studies , Ultrasonography/methods
6.
Autops. Case Rep ; 10(2): e2020155, Apr.-June 2020. graf
Article in English | LILACS | ID: biblio-1131815

ABSTRACT

Diaphragmatic eventration (DE) associated with intestinal malrotation and renal agenesis is a rare entity. The authors report a case of a 69-year-old man who had symptoms of heart failure. He had a previous imaging diagnosis of right diaphragmatic eventration and dilated cardiomyopathy. He died on the second day after the hospital admission and had a post mortem examination that confirmed complete right diaphragmatic eventration, intestinal malrotation, left renal agenesis, dilated cardiomyopathy, and anteriorly rotated right kidney and had findings suggestive of a thoracoabdominal compartment syndrome. Thoracoabdominal compartment syndrome is described as transmission of abdominal pressure through a defective diaphragm causing compression of the hemithorax viscera and mediastinal shift with a hemodynamic alteration. The association of these anomalies is rare, and the possibility of this finding in a patient with eventration should always be considered.


Subject(s)
Humans , Male , Aged , Compartment Syndromes/pathology , Diaphragmatic Eventration/pathology , Kidney/abnormalities , Autopsy , Cardiomyopathy, Dilated , Fatal Outcome
7.
Rev. cuba. pediatr ; 92(2): e1070, abr.-jun. 2020. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1126750

ABSTRACT

Introducción: El ultrasonido prenatal aporta una magnífica forma de introducirnos en la patofisiología renal humana, pero es incapaz de detectar todas las anomalías. Objetivos: Identificar las principales anomalías de riñón y tracto urinario en pacientes con diagnóstico prenatal o posnatal de estas anomalías. Métodos: Se incluyeron en el estudio todos los pacientes que llegaron remitidos al servicio de Nefrología del Hospital Pediátrico Docente William Soler entre el 1ero. de octubre de 2015 y el 30 de septiembre de 2017, por haberse detectado alteraciones en el ultrasonido prenatal durante el seguimiento de un embarazo normal y aquellos en los que después del nacimiento se comprobó alguna anormalidad en forma incidental o por síntomas relacionados. Se programó seguimiento clínico, imagenológico y terapéutico de acuerdo con la anomalía detectada. Resultados: El estudio incluyó 81 pacientes, 65 con diagnóstico prenatal y 16 con hallazgo posnatal. El sexo masculino estuvo representado por el 66,7 por ciento y la anomalía más frecuente estudiada resultó la displasia renal multiquística (23,4 por ciento). En segundo lugar, el diagnóstico morfológico correspondió a dilataciones del tracto urinario, que en su estudio posnatal se clasificaron como hidronefrosis (20,9 por ciento), pielectasias (17,4 por ciento) y reflujo vesicoureteral (7,4 por ciento). Conclusiones: El ultrasonido prenatal para la detección de anomalías de riñón y tracto urinario es un proceder diagnóstico de gran utilidad porque permite prepararnos para enfrentar estas anomalías antes que presente síntomas relacionados y además puede proporcionar una adecuada información a los padres. No todas las anomalías congénitas se detectan mediante ecografía prenatal(AU)


Introduction: The prenatal ultrasound provides a great way to introduce us to the human renal pathophysiology, but is unable to detect all of the anomalies. Objectives: To identify the main anomalies of the kidney and urinary tract in patients with prenatal or postnatal diagnosis of those. Methods: There were included in the study all the patients who were referred to the Nephrology Service of William Soler Pediatric Teaching Hospital from October 1, 2015 to September 30, 2017 being detected alterations in the prenatal ultrasound during the follow-up of a normal pregnancy and those in which after birth any abnormality was found incidentally or by related symptoms. Clinical, imaging and therapeutic follow-up were scheduled in accordance with the anomaly detected. Results: The study included 81 patients, 65 with prenatal diagnosis and 16 with post-natal finding. The male sex was represented by the 66.7 percent and the most common anomaly studied was the multicystic dysplastic kidney (23.4 percent). Secondly, the morphological diagnosis corresponded to dilations of the urinary tract, which in the post-natal study were classified as hydronephrosis (20.9 percent), pyelectasis (17.4 percent) and vesicoureteral reflux (7.4 percent). Conclusions: The prenatal ultrasound for the detection of kidney and urinary tract´s anomalies is a diagnosis of great utility because it allows us to prepare to face these anomalies before they present related symptoms and it can also provide adequate information to parents. Not all congenital anomalies are detected by prenatal ultrasound(AU)


Subject(s)
Humans , Male , Female , Pregnancy , Infant, Newborn , Urinary Tract/abnormalities , Urinary Tract/diagnostic imaging , Kidney/abnormalities , Kidney/diagnostic imaging , Postnatal Care/methods , Epidemiology, Descriptive , Cross-Sectional Studies , Prospective Studies , Ultrasonography, Prenatal/methods
8.
Int. j. morphol ; 38(3): 793-798, June 2020. graf
Article in English | LILACS | ID: biblio-1098321

ABSTRACT

Sirenomelia or mermaid syndrome is an extremely rare congenital lethal malformation with a frequency between 1.5 and 4.2 per 1 000 000 pregnancies.The association of sirenomelia with the VACTERL association is very rare, with twenty cases reported in the literature and only two cases with VACTERL-H. We present two cases of sirenomelia, type I and type II associated with VACTERL-H and VACTERL syndromes and we review the literature. First time pregnancy women aged 15 and 40 years, without harmful habits and diseases, where between 25-27 gestational week (GW) the prenatal study identifies malformative fetus and the pregnancy is interrupted by medical evidence. The fetopathological examination in the first case identified sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal agenesis, ureteral and bladder agenesis, tracheo-esophageal fistule, agenesis of external genitals, monkey fold of the left palm of the hand - VACTERL-H. In the second case, where genetic testing is normal, sirenomelia type II associated with agenesis of external genitalia, anal imperforation, myelomeningocele, dolichocrania, macroglossia, low set ears, left preauricular skin tag, long philtrum, lung hypoplasia, split cadiac apex, single umbilicalis artery, blind end colon, hepatomegaly, accessory spleen, polycystic horseshoe kidney, uterine and vaginal agenesis, presence of two ovaries and duodenal stenosis - VACTERL association. This two cases, lead us to believe that sirenomelia and the VACTERL association are probably different manifestations of a pathogenetic process leading to disorders of blastogenesis at different levels during embryonic development.


La sirenomelia es una malformación congénita y excepcionalmente rara, con una frecuencia entre 1,5 y 4,2 en un millón de embarazos. La combinación de la sirenomelia con el síndrome de VACTERL es igualmente rara. La literatura especializada informa sobre la existencia de una veintena de casos solamente; en lo que respecta a su asociación con el síndrome de VACTERL-H se conocen solo dos casos. Luego de realizar una revisión de la literatura presentamos dos casos de sirenomelia asociada con los síndromes de VACTERL-H y de VACTERL En el estudio se analizaron los primeros embarazos de dos mujeres, edad de 15 y de 40 años, respectivamente, ambas mujeres completamente sanas y sin hábitos viciosos. Entre la vigésima quinta y la vigésima séptima semana gestacional (SG) del embarazo ambas mujeres, el análisis prenatal comprueba la existencia de malformación del feto debido a lo cual los embarazos fueron interrumpidos por prescripción médica. El análisis fetopatológico del primer caso comprueba la existencia de sirenomelia de tipo I asociada con mielomeningocele, hidrocefalia, atresia anal, arteria umbilical única, agenesia bilateral de los riñones y de los ureteres que transportan la orina desde los riñones hasta la vejiga, fístula traqueoesofágica, agenesia de los órganos genitales externos, línea simiesca en la palma de la mano izquierda - VACTERLH. En el segundo caso, en que el análisis genético ha resultado normal, se observó la presencia de sirenomelia de tipo II asociada con agenesia de los órganos genitales externos, atresia anal, mielomeningocele, dolicocrania, macroglosia, orejas bajas, filtrum alargado, hipoplasia pulmonar, ápice cardíaco escindido, arteria umbilical única, colon terminado en ciego, bazo accesorio, poliquistosis renal, riñón en herradura, agenesia vaginal y de útero, presencia de dos ovarios y estenosis duodenal - VACTERL asociación. Los dos casos investigados permiten llegar a la conclusión de que la sirenomelia y su combinación con el síndrome de VACTERL probablemente sean manifestaciones diferentes de un proceso patogenético que conlleva la alteración de la blastogénesis en distintos niveles durante el proceso del desarrollo embrionario.


Subject(s)
Humans , Female , Pregnancy , Adolescent , Adult , Abnormalities, Multiple , Ectromelia/complications , Ectromelia/diagnosis , Fetal Diseases/diagnosis , Anal Canal/abnormalities , Syndrome , Trachea/abnormalities , Fatal Outcome , Esophagus/abnormalities , Kidney/abnormalities
9.
Rev. cuba. obstet. ginecol ; 45(3): e484, jul.-set. 2019. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1093659

ABSTRACT

Introducción: Las malformaciones congénitas, como defectos estructurales primarios de un órgano, parte de él o de zonas más extensas del organismo, resultan de una alteración inherente en el desarrollo, que se hace evidente al examen físico del feto y del recién nacido, antes o posterior al nacimiento, cuando se hace patente el defecto funcional de un órgano interno afectado anatómicamente. Objetivo: Caracterizar las malformaciones congénitas renales fetales diagnosticadas por ultrasonografía bidimensional, atendidas durante 2015 y 2016. Métodos: Se realizó un estudio descriptivo, longitudinal y prospectivo en el Centro Provincial de Genética Médica de Santiago de Cuba. Se seleccionó la muestra por el método aleatorio simple para un total de 59 gestantes (34 de 2015 y 25 de 2016), a las que se les diagnosticó algún tipo de malformación congénita renal embriofetal. Resultados: La malformación congénita renal que predominó fue la hidronefrosis, seguida de riñón poliquístico. En los hallazgos morfológicos por ecosonografía predominaron las afecciones del parénquima renal. El sexo fetal de mayor incidencia fue el masculino. La edad gestacional donde incidieron las afecciones renales en gestantes fue de 25 y más semanas, con edad materna entre 20 y 35 años, sin reportar factores genéticos. Los factores de riesgo externos de origen materno que más incidieron fueron la hipertensión arterial, el hábito de fumar y la diabetes. Conclusiones: Se mostraron los principales hallazgos morfológicos ultrasonográficos de los diferentes tipos de malformaciones congénitas renales encontradas, así como se identificaron los diferentes factores de riesgo presentes en las embarazadas. Se observó un predominio de las gestantes a temprana edad con hidronefrosis como el tipo de malformación congénita más frecuente(AU)


Introduction: Congenital malformations, as primary structural defects of an organ, part of it or larger areas of the organism, result from an inherent alteration in development, which is evident from the physical examination of the fetus and the newborn, before or after birth, when the functional defect of an anatomically affected internal organ becomes apparent. Objective: To characterize fetal renal congenital malformations diagnosed by two-dimensional ultrasonography during 2015 and 2016. Methods: A descriptive, longitudinal and prospective study was conducted at the Provincial Center of Medical Genetics in Santiago de Cuba. The sample was selected by simple random method for a total of 59 pregnant women (34 from 2015 and 25 from 2016). They were diagnosed with some type of embryo-fetal renal congenital malformation. Results: The congenital renal malformation that predominated was hydronephrosis, followed by polycystic kidney. In the morphological findings by echocardiography, renal parenchymal conditions predominated. Male fetal sex had the highest incidence. The gestational age where renal conditions affected pregnant women was 25 weeks and more, with maternal age ranging 20 and 35 years, without reporting genetic factors. Smoking and diabetes were the external risk factors of maternal origin that most affected high blood pressure. Conclusions: The main ultrasonographic morphological findings of the different types of congenital renal malformations found were shown, as well as the different risk factors present in pregnant women. A predominance of pregnant women at early age with hydronephrosis was observed as the most common type of congenital malformation(AU)


Subject(s)
Polycystic Kidney, Autosomal Recessive/epidemiology , Hydronephrosis/epidemiology , Kidney/abnormalities , Epidemiology, Descriptive , Prospective Studies , Ultrasonography, Doppler, Duplex/methods
10.
Arq. bras. med. vet. zootec. (Online) ; 71(3): 833-836, May-June 2019. ilus
Article in English | LILACS, VETINDEX | ID: biblio-1011311

ABSTRACT

A 3 year old female feline of mixed breed was sent to the diagnostic imaging sector under suspicion of bleeding due to ovariohysterectomy. An abdominal ultrasonography was performed to confirm the initial suspicion. However, no signs of bleeding were found, instead it was observed that the left renal silhouette had two pelvises and was elongated and larger than normal. The right kidney was not found. Excretory urography was requested to evaluate the condition of the ureters. The final diagnosis was crossed renal ectopia with fusion in an asymptomatic cat with no changes in renal function.(AU)


Uma gata, sem raça definida, com três anos de idade, foi encaminhada para o setor de diagnóstico por imagem sob suspeita de hemorragia devido à ovário-histerectomia. Foi realizada ultrasonografia abdominal para confirmar a suspeita inicial, mas nenhum sinal de hemorragia foi encontrado; visibilizou-se, entretanto, a silhueta renal esquerda alongada, com presença de duas pelves. O rim direito não foi encontrado. Solicitou-se exame de urografia excretora para avaliação de ureteres. O diagnóstico foi de ectopia renal cruzada com fusão em um felino assintomático e sem alterações na função renal.(AU)


Subject(s)
Animals , Female , Cats , Cats/abnormalities , Fused Kidney/veterinary , Fused Kidney/diagnostic imaging , Kidney/abnormalities , Urography/veterinary , Ultrasonography/veterinary
11.
Int. j. morphol ; 37(1): 12-16, 2019. graf
Article in English | LILACS | ID: biblio-989997

ABSTRACT

SUMMARY: Horseshoe kidney (HSK) is the most common kidney malformation. This review analyses the literature surrounding the etiology, morphology and clinical anatomy of these kidney fusion anomalies. A systematic literature search was carried out using the Science Direct and Scopus applications. HSK is characterized by three anatomic abnormalities: ectopia, malrotation and vascular changes. The study put emphasis especially on blood supply and upper urinary tract changes in HSK's patients. Arterial blood supply was analysed not only basing on Graves pattern, but also a new model of supply created on horseshoe kidneys computed tomography was taken into account. In addition, study presents clinical aspects of especially significant pathology of HSK, like hydronephrosis, stones and urinary tract infection. This study focuses also on congenital anomalies associated with horseshoe kidney.


RESUMEN: El riñón en herradura (RH) es la malformación renal más común reportada en la literatura. Esta revisión analiza la literatura que rodea la etiología, morfología y anatomía clínica de esta anomalía de fusión renal. Se realizó una búsqueda sistemática de la literatura utilizando las aplicaciones Science Direct y Scopus. El riñón en herradura se caracteriza por tres anomalías anatómicas: ectopía, malrotación y cambios vasculares. El estudio puso énfasis especialmente en el suministro de sangre y los cambios del tracto urinario superior en los pacientes con RH. El suministro de sangre arterial se analizó no solo basándose en el patrón de Graves, sino que también se tuvo en cuenta un nuevo modelo de suministro creado en los riñones en herradura. Además, el estudio presenta aspectos clínicos de patología especialmente significativa de RH, como hidronefrosis, cálculos e infección del tracto urinario. Este estudio se centró también en las anomalías congénitas asociadas con el riñón en herradura.


Subject(s)
Humans , Fused Kidney , Kidney/abnormalities , Kidney/blood supply
12.
Int. braz. j. urol ; 44(2): 409-410, Mar.-Apr. 2018.
Article in English | LILACS | ID: biblio-1040039

ABSTRACT

ABSTRACT Introduction and objective Urethral duplication is a rare congenital anomaly, with roughly 200 cases reported in the literature (1). It is more frequent in males, with few cases reported in females. The clinical presentation differs according to the anatomical variant present. The duplication most commonly occurs in the sagittal plane with one urethra located ventrally and the other dorsally (2). Usually the ventral urethra is the more functional of both. Duplications occurring in the coronal plane are quite rare and they are usually associated with bladder duplication (3). The purpose of this paper was to present a video of a boy with an unusual urethral duplication form. Materials and Methods Patient was born premature due to oligohydramnios at 7 months-gestational age and he has initial diagnosis of hypospadia. Since then, he presented at least 7 febrile UTI and mother complained of difficult micturition and a presence of a mass at lower abdomen. Patient was referred to our institution and we identified urethral duplication with a glandar and scrotal meatus, palpable bladder and left penile-hemiscrotum transposition. US and CT-scan showed left kidney agenesis and overdistended bladder. VCUG and retrograde urethrography showed duplication, presence of contrast in the seminal vesicles and complete catheterizing of both urethras was not possible. Results The topic urethra was dysplastic and not patent to a 4Fr plastic tube so we were unable to access it endoscopically. We performed initially a Mitrofanoff procedure to allow CIC and treat chronic retention. Six months later, we assessed both urethras surgically and concluded that dorsal urethra was dysplastic after 3cm still in the penile area and scrotal urethra was not possible to be catheterized. We excised the ventral urethra because of dribbling complaints up to bulbar area and reconstructed the scrotal transposition, keeping the topic urethra for cosmetic issues. Patient had excellent outcome, performs CIC every 4 hours and has not presented further UTI episodes. Discussion and conclusion The urethral duplication is an anomaly that has multiple anatomical presentations. There are several theories about the etiology, but none can explain all types of presentations. There is also more than one rating available, and the Effmann classification is the most detailed. The case exemplifies this varied spectrum of anatomic urethral duplication. It resembles the urethral duplication type IIa-Y, however, ventral urethra meatus was located in penoscrotal area and both urethras were at least partially hypoplastic/dysplastic associated with obstruction and bladder retention. In determining how to best manage a patient with Y-type urethral duplication, the caliber and quality of the orthotopic urethra must first be assessed. Published reports suggest that best outcomes are those using the ventral duplicated urethra for the reconstruction (4). In this case, none of urethras were functional and a supravesical outlet channel had to be provided. The treatment of this condition requires an individualized planning and a vast technical knowledge of reconstructive surgery.


Subject(s)
Humans , Male , Infant, Newborn , Urethra/abnormalities , Congenital Abnormalities/surgery , Urinary Retention/surgery , Hypospadias/surgery , Kidney/abnormalities , Kidney Diseases/congenital , Chronic Disease , Urinary Retention/complications , Hypospadias/complications , Kidney/surgery , Kidney Diseases/surgery , Kidney Diseases/complications
13.
Rev. bras. anestesiol ; 68(2): 205-208, Mar.-Apr. 2018. tab
Article in English | LILACS | ID: biblio-897835

ABSTRACT

Abstract Introduction: The term VACTERL is an acronym for an association of congenital malformations: including vertebral, anal, cardiac, tracheo-esophageal, renal and limb anomalies. VACTERL anomalies pose a formidable challenge to anesthesiologists. We describe the anesthetic management of a parturient with VACTERL association, who underwent neuraxial analgesia for labor and vaginal delivery. Case report: A 23 year old primigravida at 39 weeks gestation presented in labor at 4 cm cervical dilatation, completely effaced, requesting labor analgesia. Past medical history included VACTERL association with an imperforate anus and a partial endocardial cushion defect, both repaired in early childhood. She also had significant dorso-lumbar scoliosis with an extra lumbar vertebra. An MRI performed at 14 years age revealed the above findings with no spinal cord abnormalities. With a normal neurologic exam, a combined spinal epidural technique was performed. Despite significant scoliosis, the epidural space was identified at approximately the L3-L4 interspace at a depth of 5 cm. Spinal Fentanyl 25 mcg was administered followed by continuous patient-controlled epidural analgesia. The patient experienced excellent pain relief throughout her labor, and had an uneventful vaginal delivery 5 h after epidural placement. Discussion: The rarity of VACTERL association in the obstetric population with its extensive anomalies mandates a multidisciplinary approach in the prenatal period as it can pose major challenges to all health care providers, including airway, ventilatory, cardiac and neuraxial problems. This is the first reported case of a successful and safe neuraxial technique in a laboring patient with the VACTERL association with albeit limited vertebral and spinal cord anomalies.


Resumo Introdução: O termo Vacterl é um acrônimo para uma associação de malformacões congênitas que inclui anomalias vertebral, anal, cardíaca, traqueal, esofágica, renal e dos membros (Limbs em inglês). As anomalias Vacterl representam um enorme desafio para os anestesiologistas. Descrevemos o manejo anestésico de uma parturiente com síndrome de Vacterl submetida à analgesia neuraxial para parto normal. Relato de caso: Paciente primípara, 23 anos, 39 semanas de gestação, apresentava em trabalho de parto 4 cm de dilatação cervical, apagamento completo, exigiu analgesia de parto. A história médica incluía síndrome de Vacterl com ânus imperfurado e defeito parcial do coxim endocárdico, ambos corrigidos na primeira infância. A paciente também apresentava escoliose dorso-lombar acentuada com uma vértebra lombar adicional. Uma RM feita aos 14 anos revelou os achados mencionados acima sem anormalidades na medula espinhal. Com um exame neurológico normal, a técnica anestésica combinada raquiperidural (CRP) foi usada. Apesar de escoliose significativa, o espaço peridural foi identificado próximo ao interespaço L3-L4 a uma profundidade de 5 cm. Fentanyl (25 mcg) foi administrado por via espinhal, seguido de analgesia peridural contínua controlada pela paciente. A paciente sentiu grande alívio da dor durante todo o trabalho de parto; o parto vaginal ocorreu 5 horas após a anestesia CRP sem intercorrências. Discussão: A raridade da síndrome de Vacterl na população obstétrica com suas extensas anomalias exige uma abordagem multidisciplinar no pré-natal porque pode representar grandes desafios para todos os prestadores de cuidados de saúde, inclusive problemas respiratórios, de ventilação, cardíacos e do neuroeixo. Este é o primeiro caso relatado de uma técnica neuraxial bem-sucedida e segura em uma paciente em trabalho de parto com síndrome de Vacterl, embora com anomalias limitadas da coluna vertebral e medula espinhal.


Subject(s)
Humans , Female , Pregnancy , Young Adult , Anal Canal/abnormalities , Pregnancy Complications , Spine/abnormalities , Trachea/abnormalities , Analgesia, Epidural , Analgesia, Obstetrical , Limb Deformities, Congenital , Esophagus/abnormalities , Heart Defects, Congenital , Kidney/abnormalities , Labor, Obstetric , Delivery, Obstetric
14.
Medicina (B.Aires) ; 78(1): 47-49, feb. 2018. ilus
Article in Spanish | LILACS | ID: biblio-894548

ABSTRACT

El tumor fibroso solitario es raro. Si bien su localización más frecuente es la pleura, han sido informados algunos casos de ubicación retroperitoneal. Es difícil diferenciarlo imagenológicamente de otras neoplasias, por lo que casi siempre el diagnóstico es histológico. Dado que los tumores fibrosos solitarios tienen presentaciones clínicas muy diversas, una mejor compresión de la ubicación y sus características imagenológicas ayudaría a abreviar la lista de diagnósticos diferenciales. Comunicamos un tumor fibroso solitario de localización retroperitoneal cuyo diagnóstico fue confirmado por examen histológico.


The solitary fibrous tumor is uncommon. Even though it frequently locates in the pleura, a few cases have been reported in the retroperitoneum. Differentiation from other neoplasms is difficult, and therefore the diagnosis is always attained through histological examination. Although solitary fibrous tumors have variable clinical behaviors, a better comprehension of the location and its imaging characteristics would help to decrease the list of differential diagnoses. We report a solitary fibrous tumor located in the retroperitoneum whose diagnosis was confirmed by histological examination.


Subject(s)
Humans , Male , Aged , Retroperitoneal Neoplasms/diagnostic imaging , Congenital Abnormalities/diagnostic imaging , Solitary Fibrous Tumors/diagnostic imaging , Kidney/abnormalities , Kidney Diseases/congenital , Retroperitoneal Neoplasms/surgery , Congenital Abnormalities/surgery , Magnetic Resonance Imaging , Tomography, X-Ray Computed , Solitary Fibrous Tumors/surgery , Kidney/surgery , Kidney/diagnostic imaging , Kidney Diseases/surgery , Kidney Diseases/diagnostic imaging
15.
Rev. chil. obstet. ginecol. (En línea) ; 82(6): 595-602, Dec. 2017. graf
Article in English | LILACS | ID: biblio-899949

ABSTRACT

RESUMEN Antecedentes: El síndrome de hemivagina obstruida, útero didlefo y anomalía renal ipsilateral (OVHIRA) es una malformación mülleriana infrecuente. Objetivo: Se presenta un caso con una complicación no antes descrita y se hace una revisión de la literatura hasta la fecha. Caso clínico: Mujer de 12 años de edad con antecedentes de diagnóstico de útero bicorne y agenesia renal derecha en la infancia. Veintidós meses post menarquia consulta por algia pelviana y dismenorrea premenstrual. Ecografía revela hematómetra en cuerpo uterino izquierdo, de 142 x 69 x 61 mm. Resonancia nuclear magnética (RNM) describe además un hematocolpos de 7 x 10 cm y un tabique vaginal transverso de hemivagina izquierda. Se diagnostica OHVIRA y se planifica cirugía para resecar el tabique. Días antes del la cirugía, la paciente tiene episodio de metrorragia. Ecográficamente se constata una disminución considerable del volumen de hematómetra. En la cirugía se pesquisa fístula uterina que comunica útero obstruido izquierdo con útero no obstruido derecho por donde había drenado espontáneamente la hematómetra. Al resecar el tabique vaginal izquierdo se termina de drenar hematómetra y hematocolpos. Al alta, paciente se maneja con dilatación vaginal progresiva por seis meses para evitar la estenosis del tabique. Conclusión: Se presenta una complicación no descrita, fístula útero uterina, de una malformación mülleriana infrecuente (OVHIRA). El proceso diagnóstico meticuloso, la cirugía bien planificada y la dilatación vaginal prolongada permitieron tener éxito en su manejo.


ABSTRACT Background: Obstructed Hemivagina and Ipsilateral Renal Anomaly Syndrome (OHVIRA) is an uncommon Müllerian anomaly. Objective: A case is described and the main complications related to the syndrome are reviewed. Case report: Female, 12 years old, with a medical history of a bicornuate uterus and right renal agenesis diagnosed at birth. Twenty-two months post menarche she seeks medical attention due to pelvic pain, menometrorrhagia and premenstrual dysmenorrhea. An ultrasound revealed a hematometra, of 142 x 69 x 61 mm, in the left uterus. Magnetic resonance imaging also described a 7 x 10 cm hematocolpos and a transverse vaginal septum of the left hemivagina. OHVIRA is diagnosed and surgery is planned to resect the septum. Two days before the surgery, the patient has an episode of abundant metrorrhagia. Ultrasonographically a considerable decrease in the volume of the hematometra is observed. In surgery, a uterine fistula is discovered which communicates the left obstructed uterus with the right unobstructed uterus, where the hematometra had been partially drained. During the procedure, the left vaginal septum is resected, which completes the drainage of the hematometra and hematocolpos. At discharge, the patient undergoes progressive vaginal dilation for six months to avoid stenosis of the septum. Conclusion: An utero-uterine fistula has not been previously described as a complication of OHVIRA. The meticulous diagnostic process, the well planned surgery and the prolonged vaginal dilation allowed for a successful management.


Subject(s)
Humans , Female , Child , Urogenital Abnormalities/diagnosis , Hematocolpos , Hematometra , Urogenital Abnormalities/surgery , Uterus/abnormalities , Uterus/diagnostic imaging , Vagina/abnormalities , Vagina/surgery , Kidney/abnormalities
16.
Int. j. morphol ; 35(2): 611-614, June 2017. ilus
Article in Spanish | LILACS | ID: biblio-893029

ABSTRACT

La duplicación del sistema colector renal es la variación más frecuente del sistema urinário y se puede presentar como duplicación completa o incompleta, así como la inserción ectópica en todas las partes del sistema urinario a partir de la parte distal hacia la vejiga. Este artículo presenta uma duplicación completa no ectópica del ureter en el riñón izquierdo de un cadáver de un individuo brasileño, de sexo masculino. Ambos uréteres tenían origen en el hilio renal y continuaban hasta la vejiga urinaria separadamente, desembocando en ostios diferentes, en el área del trígono vesical, donde el ostio perteneciente al uréter que drenaba el polo superior presentó posición distal y lateral en relación al ostio del uréter que drenaba el polo inferior. Esta disposición es uma excepción a la regla de Weigert-Meyer, que indica que el uréter del polo superior, por el hecho de permanecer fijo por más tiempo al conducto mesonéfrico, presenta mayor migración, terminando medial e inferiormente al uréter que drena el polo inferior en 97 % de los casos.


Duplication of the urinary tract is the most frequent variation of this system and may present as complete or incomplete duplication, as well as ectopic insertion throughout all parts of the urinary system from distal to the bladder. This article presents a complete non-ectopic duplication of the ureter in the left kidney of a cadaver of one Brazilian individual of male sex. In this study, both ureters originated in the renal hilum and continued to the urinary bladder separately, opening into different ostia, in the area of the bladder trigone, where the ostium belonging to the ureter that draining the upper pole presented a distal and lateral position in relation to the ostium of the ureter draining the lower pole. This arrangement is an exception to the Weigert-Meyer rule, which indicates that the ureter of the upper pole, due to its longer fixation to the mesonephric duct, presents a greater migration, ending medial and inferior to the ureter draining the inferior pole in 97 % of cases.


Subject(s)
Humans , Male , Adult , Kidney/abnormalities , Ureter/abnormalities , Cadaver
18.
Rev. cuba. med. mil ; 45(4): 1-5, set.-dic. 2016. ilus
Article in Spanish | LILACS, CUMED | ID: biblio-960568

ABSTRACT

Las anomalías congénitas del riñón pueden ser variadas. Dentro de las anomalías de posición, una de las más frecuentes es la ectopia renal y la localización más frecuente es en la cavidad pélvica (riñón pélvico). Se presenta el caso de una paciente en su tercera década de vida que acude a consulta de nefrología por dolor lumbar inespecífico, se decide realizar ultrasonido renal, no encontrándose los riñones en su posición habitual. Después de tener los resultados normales de una hemoquímica sanguínea se somete a un urograma descendente donde se pueden apreciar los riñones en una posición pélvica. Unos meses después la paciente acude nuevamente a consulta remitida por obstetricia por embarazo deseado de 9 semanas. Se conversa con la paciente de los principales riesgos y se decide continuar con la gestación haciendo recomendaciones generales y un seguimiento estrecho para lograr llevar a término el embarazo. La evolución de la paciente fue favorable y hoy disfruta de su maternidad a pesar de tener una anomalía congénita renal que no es infrecuente y que se detecta muchas veces de forma casual y que en este caso los riñones compartieron el espacio pélvico con una gestación que llegó a feliz término(AU)


Congenital kidney abnormalities can be varied. Within the positional abnormalities, one of the most frequent is the renal ectopia and the most frequent location is in the pelvic cavity (pelvic kidney). We present the case of a patient in her third decade of life who went to a nephrology clinic for nonspecific low back pain. It was decided to perform renal ultrasound, not finding the kidneys in their usual position. After having normal results of a blood chemistry, it is subjected to a downward urogram where the kidneys could be seen in a pelvic position. Few months later this patient returned to a consultation referred by obstetrics for a nine-week desired pregnancy. The main risks are discussed and the patient decided to continue her pregnancy. General recommendations are given to the patient and a close follow-up is the option to follow in order to achieve this pregnancy. The evolution was favorable and now this patient enjoys her motherhood despite having a renal congenital anomaly that is not uncommon and it is often detected by chance. In this case, kidneys shared the pelvic space with a gestation that arrived to a happy ending(AU)


Subject(s)
Humans , Female , Pregnancy , Adult , Pelvic Pain/diagnostic imaging , Kidney/abnormalities
19.
Rev. guatemalteca cir ; 22(1): 29-31, ener-dic, 2016. ilus
Article in Spanish | LILACS | ID: biblio-1016947

ABSTRACT

Paciente Femenina de 11 años con el síndrome de Herlyn-Werner-Wunderlich, manejado multdisciplinariamente y resuelto endoscópicamente con una septotomía y dilataciones vaginales.


This case is about a female patent, 11 years old, with Herlyn-Werner-Wunderlich Syndrome, who received multdisciplinary approach and was endoscopically resolved with septotomy and vaginal dilatatons.


Subject(s)
Humans , Female , Child , Urogenital Abnormalities/diagnosis , Vagina/abnormalities , Genitalia, Female/surgery , Kidney/abnormalities , Mullerian Ducts/abnormalities , Uterus/abnormalities , Hematocolpos/diagnosis
20.
Rev. bras. ginecol. obstet ; 38(12): 623-628, Dec. 2016. graf
Article in English | LILACS | ID: biblio-843885

ABSTRACT

ABSTRACT We describe a Herlyn-Werner-Wunderlich syndrome (HWWS) patient with previous history of infertility who got pregnant without treatment and presented a pyometra in the contralateral uterus throughout the gestational period, despite multiple antibiotic treatments. Due to the uterus' congenital anomaly and the possibility of ascending infection with subsequent abortion, this pregnancy was classified as high-risk. We believe that the partial horizontal septum in the vagina may have contributed to the closure of the gravid uterus cervix, thus ensuring that the pregnancy came to term, with an uneventful vaginal delivery.


RESUMO Os autores descrevem uma paciente com síndrome de Herlyn-Werner-Wunderlich (SHWW) e história prévia de infertilidade, que engravidou espontaneamente. Durante todo o período gestacional apresentou, apesar da instituição de antibioticoterapia, um piometra localizado ao útero não gravídico. Devido à anomalia congênita uterina e ao risco de infeção ascendente, com possível desfecho obstétrico desfavorável, esta gravidez foi classificada de alto risco. O septo vaginal horizontal e parcial poderá ter contribuído para ausência de disseminação da infecção, permitindo que a gravidez tenha chegado a termo, com um parto vaginal, sem intercorrências.


Subject(s)
Humans , Female , Pregnancy , Adult , Abnormalities, Multiple/diagnostic imaging , Kidney/abnormalities , Urogenital Abnormalities/diagnostic imaging , Uterus/abnormalities , Infertility, Female/etiology , Pyometra , Syndrome , Ultrasonography, Prenatal , Urogenital Abnormalities/complications , Uterus/diagnostic imaging , Vagina/abnormalities , Vagina/diagnostic imaging
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