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Rev. Hosp. Ital. B. Aires (2004) ; 39(1): 19-21, mar. 2019. ilus., graf.
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1022121


La policitemia primaria es producida por una mutación adquirida o heredada en las células progenitoras de los glóbulos rojos, mientras que la poliglobulia secundaria está relacionada con un aumento de la eritropoyetina sérica como respuesta a la hipoxia tisular o a la producción autónoma tumoral. Hace más de medio siglo que se conoce que la hidronefrosis puede actuar como una rara causa de eritrocitosis debido al aumento de producción de eritropoyetina por un riñón que censa una disminución de oxígeno, mecanismo también observado en la estenosis de la arteria renal y en los quistes renales. Se describe a continuación el caso de un paciente de 38 años con poliglobulia atendido en el Hospital Italiano de San Justo (Argentina), que presenta como hallazgo una hidronefrosis unilateral severa y cuya resolución quirúrgica a través de una nefrectomía revierte el cuadro hematológico de base. (AU)

Primary polycythemia is produced by an acquired or inherited mutation in progenitor cells of red blood cells, while secondary polyglobulia is related to an increase in serum erythropoietin in response to tissue hypoxia or autonomous tumor production. Since the middle of the twentieth century, the hydronephrosis is known to be a rare etiology of secondary polycythemia, with increased erythropoietin production caused by diminished oxygen sensing by the kidney, also seen in renal artery stenosis and kidney cysts. We describe a case of a 38 year old patient with polycythemia studied in the "Hospital Italiano de San Justo" (Argentina) that presented an incidental severe unilateral hydronephrosis, and nephrectomy was carried out as a final resolution of the hematological disorder. (AU)

Humanos , Animais , Masculino , Adulto , Pessoa de Meia-Idade , Policitemia/diagnóstico , Pielonefrite/diagnóstico , Infecções Urinárias/complicações , Eritropoetina/sangue , Hidronefrose/diagnóstico , Nefrectomia/tendências , Policitemia/complicações , Policitemia/etiologia , Pielonefrite/sangue , Obstrução da Artéria Renal/patologia , Dor Lombar , Hipóxia-Isquemia Encefálica/patologia , Eritrócitos/fisiologia , Doenças Renais Císticas/patologia , Disuria , Febre , Hidronefrose/cirurgia , Hidronefrose/complicações , Anemia , Nefrectomia/métodos
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-771939


OBJECTIVE@#To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS).@*METHODS@#Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis.@*RESULTS@#Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins.@*CONCLUSION@#The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.

Anormalidades Múltiplas , Diagnóstico , Genética , Cerebelo , Anormalidades Congênitas , Anormalidades do Olho , Diagnóstico , Genética , Humanos , Doenças Renais Císticas , Diagnóstico , Genética , Proteínas de Membrana , Genética , Mutação , Linhagem , Retina , Anormalidades Congênitas , Sequenciamento Completo do Exoma
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-774030


Nephronophthisis (NPHP) is a group of autosomal recessive tubulointerstitial cystic kidney disorders. This article reports a case of NPHP type 12 caused by TTC21B mutations. The girl had an insidious onset, with moderate proteinuria, renal dysfunction, stage 2 hypertension, situs inversus, and short phalanges when she visited the hospital for the first time at the age of 3 years and 6 months. The renal lesions progressed to end-stage renal disease (ESRD) before she was 4 years old. Urine protein electrophoresis showed glomerular proteinuria. There were significant increases in urinary β2-microglobulin and α1-microglobulin. Gene detection revealed two compound heterozygous mutations, c.1552T>C (p.C518R) and c.752T>G (p.M251R), in the TTC21B gene, which came from her father and mother respectively. The c.752T>G mutation was a novel mutation. It is concluded that besides typical tubular changes of NPHP, marked glomerular damage is also observed in patients with TTC21B gene mutations.

Pré-Escolar , Feminino , Genótipo , Humanos , Rim , Doenças Renais Císticas , Falência Renal Crônica , Proteínas Associadas aos Microtúbulos , Genética , Mutação , Nefrose , Genética
J. vasc. bras ; 17(2): 160-164, abr.jun.2018.
Artigo em Português | LILACS (Américas) | ID: biblio-910865


A doença cística adventicial (DCA) da artéria radial é uma condição rara, com poucos casos descritos na literatura. Relatamos o caso de um paciente do sexo masculino, 62 anos, branco, diabético, hipertenso, com insuficiência renal crônica e indicação para terapia substitutiva renal, em quem foi encontrada uma lesão cística da artéria radial durante operação para confecção de fistula arteriovenosa para hemodiálise. Após a dissecção da artéria radial, ficou evidenciado um importante envolvimento do vaso por uma formação cística. A técnica cirúrgica adotada foi a ressecção do segmento cístico comprometido e preservação da artéria radial. A confecção da fistula arteriovenosa foi realizada com sucesso. O diagnóstico precoce e o tratamento adequado da DCA mostram se eficientes e podem prevenir complicações e recidivas

Adventitial cystic disease (ACD) of the radial artery is a rare condition, with few cases described in the literature. We report the case of a 62-year-old white male with a history of diabetes, hypertension, and chronic kidney disease with indications for renal replacement therapy who was found to have a cystic lesion of the radial artery while undergoing surgical creation of an arteriovenous fistula. The surgical technique adopted was resection of the cystic segment and preservation of the radial artery. Fistula creation was completed successfully. Early diagnosis and appropriate treatment of ACD are effective, and can prevent complications and recurrence.

Masculino , Idoso , Doenças Renais Císticas/patologia , Artéria Radial/patologia , Artéria Radial/cirurgia , Insuficiência Renal/diagnóstico , Procedimentos Cirúrgicos Vasculares/reabilitação
Rev. méd. hered ; 28(4): 254-257, oct.-dic. 2017. ilus
Artigo em Espanhol | LILACS (Américas), LIPECS | ID: biblio-991437


El nefroblastoma quístico parcialmente diferenciado, es una variante de tumor de Wilms, de presentación muy poco común, es quístico totalmente multilocular con tabicaciones finas que muestran en su interior cúmulos de elementos de blastema o epiteliales en diferenciación. Se manifiesta principalmente en menores de dos años. Se presenta el caso de un varón de 6 meses que desarrolló una tumoración renal derecha. Los hallazgos histopatológicos de la pieza extirpada por nefrectomía fueron: presentación de formaciones quísticas, con septos fibrovasculares que muestran tejido renal primitivo con presencia de túbulos y glomérulos en diferenciación sin efecto de masa. El diagnóstico final fue de nefroblastoma quístico parcialmente diferenciado. La evolución del paciente fue favorable. (AU)

Cystic partially differentiated nephroblastoma is a clinical variant presentation of Wilms tumor. It is very uncommon and it is composed of multiloculated cysts with fine trabecula containing epithelial cells in process of differentiation. It usually affects children below 2 years of age. We present the case of a 6-month male patient who presented with a right renal tumor. Pathological findings of the resected kidney showed cystic lesions with multiple fibro vascular septum that contained primitive tubular and glomerular kidney cells with no mass effect. The final diagnosis was cystic partially differentiated nephroblastoma. The clinical evolution was favorable. (AU)

Humanos , Masculino , Lactente , Tumor de Wilms , Cistos , Doenças Renais Císticas
J. bras. nefrol ; 39(3): 329-332, July-Sept. 2017. graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-893765


Abstract Acquired Cystic Kidney Disease (ACKD) is regarded as a common late condition of end stage renal damage and expresses its most important features when associated with long term hemodialysis. ACKD is also widely known as a premalignant lesion. Its occurrence in chronically rejected renal allografts is rare and its frequency and behavior in this setting are not well known. Herein we report a case of ACKD in a long standing nonfunctional allograft (215 months) which is not associated with malignancy and briefly review the related literature.

Resumo A doença renal cística adquirida (ACKD) é considerada uma condição tardia relacionada à doença renal crônica terminal e manifesta-se de modo mais evidente no contexto de hemodiálise de longo prazo. ACKD é amplamente reconhecida como lesão pré-maligna. Sua ocorrência em enxertos renais cronicamente rejeitados é rara, de modo que a frequência e o comportamento da entidade nesse cenário não estão bem documentados. Relatamos a ocorrência de ACKD em um aloenxerto renal não funcionante sem malignidade após 215 meses de transplante e brevemente revisamos a literatura relacionada.

Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/cirurgia , Complicações Pós-Operatórias/diagnóstico , Transplante de Rim , Doenças Renais Císticas/cirurgia , Doenças Renais Císticas/diagnóstico , Fatores de Tempo , Aloenxertos
Artigo em Inglês | IMSEAR (Sudeste Asiático), GHL | ID: sea-159506


Hydatid cyst is a parasitic disease caused by the tapeworm Echinococcus granulosus. Hydatid cyst disease mostly involves the liver and the lung, while renal involvement is rare. Hydatid disease may present in unusual ways and lead to diagnostic diffi culty and management problems. A high index of suspicion for hydatid disease should be maintained while evaluating complex cystic renal masses. Herein we present an interesting case who was diagnosed to have a simple renal cyst on contrast-enhanced computed tomogram, which turned out to be a renal hydatid cyst. Despite modern imaging methods, isolated renal hydatid disease might still cause diagnostic dilemma and hydatid cysts can be found in unusual localization. Th is case was managed laparoscopically.

Adulto , Echinococcus granulosus/etiologia , Humanos , Nefropatias/diagnóstico , Nefropatias/epidemiologia , Nefropatias/cirurgia , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/epidemiologia , Doenças Renais Císticas/cirurgia , Laparoscopia , Masculino
Arch. méd. Camaguey ; 19(1): 61-65, ene.-feb. 2015.
Artigo em Espanhol | LILACS (Américas), CUMED | ID: lil-735286


Fundamento: los carcinomas de células renales surgen en su gran mayoría en el parénquima renal, existiendo un número menor de casos que aparecen de inicio en un quiste renal, denominándose carcinoma quístico renal. Objetivo: demostrar que pueden coexistir carcinomas renales sólidos y quísticos de forma independiente, aunque sea infrecuente. Caso Clínico: se presenta el caso clínico de un paciente con carcinoma quístico renal más tumor renal sólido en el parénquima, ambos con la variedad de células claras. El ultrasonido y la tomografía axial computarizada fueron los estudios que ayudaron al diagnóstico. Se le realizó nefrectomía radical en el Hospital Docente de Oncología María Curie, de Camagüey, en junio del 2013. El paciente egresó del hospital a los siete días del tratamiento quirúrgico, con seguimiento por consulta externa.

Background: renal cell carcinomas mostly appear in the renal parenchyma; there are some few cases in which they initially appear in a renal cyst so they are identified as renal cyst carcinoma. Objective: to prove that cystic and solid renal carcinomas can coexist independently, although it is infrequent. Clinical case: the clinical case of a patient who was diagnosed with renal cyst and solid renal tumor in the renal parenchyma, both originated from clear cells, is presented. Ultrasound and CAT scan helped determining the diagnosis. Results: the patient underwent a radical nephrectomy which was performed at the Maria Curie Teaching Oncological Hospital in June 2013 in Camagüey city. The patient was discharged seven days after surgery and a follow-up care was established.

Humanos , Carcinoma de Células Renais , Doenças Renais Císticas
Korean Journal of Urology ; : 351-356, 2015.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-76183


PURPOSE: To carry out long-term follow-up of patients diagnosed with asymptomatic simple renal cysts (SRCs). MATERIALS AND METHODS: One hundred fifty-eight adult patients in whom SRCs were incidentally diagnosed by abdominal ultrasonography or abdominopelvic computed tomography between August 1994 and June 2004 were followed up for over 10 years. The retrospective analysis investigated sequential changes in the size, shape, and Bosniak classification of the renal cyst and analyzed risk factors for increased size and growth rate of the cysts. RESULTS: The median follow-up period was 13.9 years (range, 10.0-19.8 years). Median patient age was 54.1 years (range, 22-86 years). Mean maximal cyst size was 33 mm (range, 2-90 mm). Among all patients, 120 (76%) showed a mean increase in maximum renal cyst diameter of 1.4 mm (6.4%) per year. Age at initial diagnosis was a risk factor for increased renal cyst maximum diameter. The probability of an increase in maximum diameter of an SRC was 7.1 times greater in patients aged 50 years or older at diagnosis than in those aged less than 50 years. However, among patients with an increased maximum diameter, the mean growth rate was lower in patients aged > or =50 years than in those aged <50 years. CONCLUSIONS: About three-quarters of adult patients with accidentally diagnosed SRCs presented with an increased maximum diameter. The only risk factor for an increase in maximum diameter was age. In patients with an increase in the maximum diameter, the growth rate of the maximum diameter was 6.4% per year during 10 years and decreased with age.

Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Cistos/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Doenças Renais Císticas/patologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Adulto Jovem
Chinese Journal of Pediatrics ; (12): 431-435, 2015.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-254697


<p><b>OBJECTIVE</b>To confirm the genetic diagnosis for providing services for genetic counseling and prenatal diagnosis, we analyzed the clinical and genetic data of a pedigree which is clinically diagnosed as Joubert syndrome.</p><p><b>METHOD</b>A Joubert syndrome pedigree was enrolled as subject of this study from our hospital's outpatients in 2013. Following the medical history collection of the proband and the suffering fetus, target sequence capture and the next-generation sequencing technology were used for the proband and the suffering fetus to find the causative genes and sanger sequencing for the members of the pedigree to check and verify if the inherited mutations are in accordance with the Mendelian inheritance. Combining the clinical symptoms and signs with the total testing results, we analyzed the Joubert syndrome pedigree clinically and genetically.</p><p><b>RESULT</b>The proband showed abnormal respiratory patterns (neonatal tachypnea) and hypertonia without abnormal eye movements, and reflected the molar tooth sign on the magnetic resonance imaging. And afterwards the patient developed hypotonia, ataxia, growth and intellectual disability accompanied by congenital blepharoptosis. There were no any symptoms and signs of liver, kidney and eyesight abnormalities so far. The affected fetus showed hydrocephalus by the auxiliary examination during the second trimesters of pregnancy without any appearance deformities. Both the proband and the affected fetus carried a missense mutation of CC2D2A gene c.2999A > T (p.Glu1000Val) from their father and carried the deletion of exon 20-21 on the same gene. Both variations were confirmed to be the Mendelian genetic compound heterozygous pattern. Whereas, the missense mutations c.2999A > T (p.Glu1000Val) on the CC2D2A gene have been proved to be inherited from the proband's father and the proband as well as the affected fetus. However, the proband's mother was normal at this locus of CC2D2A gene. The missense mutations c.2999A >T (p.Glu1000Val) have been confirmed to accord with Mendelian inheritance.</p><p><b>CONCLUSION</b>The Joubert syndrome patient may show hypertonia in the early postnatal days as a result of hydrocephalus during the second and third trimesters of pregnancy besides manifesting hypotonia, ataxia, growth and intellectual disability markedly with age accompanied by the congenital blepharoptosis and revealing the molar tooth sign on the magnetic resonance imaging, considering the medical history and the whole testing results, the compound heterozygous mutations of c.2999A > T (p.Glu1000Val) and deletion of exon 20-21 of CC2D2A gene in the pedigree may be the causal gene mutations.</p>

Anormalidades Múltiplas , Genética , Doenças Cerebelares , Cerebelo , Anormalidades Congênitas , Éxons , Anormalidades do Olho , Genética , Feminino , Testes Genéticos , Heterozigoto , Humanos , Hidrocefalia , Doenças Renais Císticas , Genética , Masculino , Mutação , Linhagem , Gravidez , Diagnóstico Pré-Natal , Proteínas , Genética , Retina , Anormalidades Congênitas
Singapore medical journal ; : e137-8, 2015.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-276784


Kidneys of paediatric deceased donors were previously considered suboptimal for older recipients. An 18-month-old deceased donor was made available via Singapore's Medical (Therapy, Education and Research) Act. To the best of our knowledge, she is the youngest local donor. We herein report a case of successful kidney transplantation, using the en bloc technique, to a 15-year-old girl with renal failure secondary to bilateral cystic dysplastic kidney.

Adolescente , Fatores Etários , Feminino , Humanos , Lactente , Doenças Renais Císticas , Cirurgia Geral , Transplante de Rim , Métodos , Insuficiência Renal , Cirurgia Geral , Doadores de Tecidos , Obtenção de Tecidos e Órgãos , Métodos
Chinese Journal of Oncology ; (12): 845-849, 2015.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-286711


<p><b>OBJECTIVE</b>To study the CT findings of cystic nephroma (CN) and multilocular cystic renal cell carcinoma (MCRCC) and to improve the accuracy of preoperative diagnosis of these two diseases.</p><p><b>METHODS</b>The CT findings of nine CN cases and 19 MCRCC cases confirmed by pathology were blindly reviewed and compared with their pathological results. Fisher's exact test and independent-samples T test were applied to statistically analyze some of the CT features of the CN and MCRCC lesions.</p><p><b>RESULTS</b>The thickness of cystic walls and partitions in the nine CN cases ranged from 0.5 to 5 mm. Cystic walls and partitions were slightly thicker in some parts without visible mural nodules. Varying amounts of solid tissue could be found in all the 19 MCRCC tumors, and the cystic walls and partitions were found partially thickened ranging from 3 mm to 13 mm. Eight cases were with mural nodules (nodule diameter: 4.5-16 mm). Nine cases of CN tumors were lobulated and 7 protruded into the renal sinus. Three out of the 19 MCRCC presented shallow lobulation, and 7 tumors protruded into the renal sinus. The CT contrast-enhancement scanning displayed moderate delayed enhancement in the cystic walls and partitions in 8 cases. The enhanced scanning revealed that all the nine cases showed enhancement of the cystic walls and partitions, while 8 cases of them had mild to moderate delayed enhancement. The cystic walls, partitions and nodules were enhanced in 19 MRCC cases, among them 17 cases displayed obvious enhancement in the cortical phase. Among the differences of CT findings between MC and MRCC, the shallow lobulation, protruding into the renal sinus, mural nodules, cystic wall and partition thickness, and net growth in the cortical and nephrographic phase were statistically significantly different (P<0.05 for all).</p><p><b>CONCLUSIONS</b>CT scan can provide significant evidence for CN and MCRCC diagnosis. CN cases usually present relatively thin and even cystic walls and partitions without mural nodules and with shallow lobulation and protruding into the renal sinus. The enhancement is mild to moderate, dynamic and delayed, while the opposite CT findings may indicate a higher possibility of MCRCC.</p>

Adenocarcinoma de Células Claras , Diagnóstico por Imagem , Carcinoma de Células Renais , Diagnóstico por Imagem , Diagnóstico Diferencial , Humanos , Rim , Diagnóstico por Imagem , Doenças Renais Císticas , Diagnóstico por Imagem , Neoplasias Renais , Diagnóstico por Imagem , Tomografia Computadorizada por Raios X
Egyptian Journal of Medical Human Genetics [The]. 2014; 15 (2): 203-207
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-154338


Rare autosomal recessive disorders of variable severity are segregating in many highly consanguineous families from the Arab population. One of these deleterious diseases is Senior-Loken syndrome, a hereditary heterogeneous multiorgan disorder, which combines nephronophthisis with retinal dystrophy, leading to blindness and eventually end stage renal failure. This disorder has been reported in many cases worldwide, including two unrelated families from Arabian Gulf countries, which share the gene pool with Kuwait. Here, we are reporting two children from an Arab family with a novel frameshift mutation found in IQCB1/NPHP5 gene; c.1241-1242delTC, predicted to cause protein termination p.Leu414HisfsStop4, and describing the associated clinical features. Identification of this pathogenic mutation helped in confirmation of the clinical diagnosis and in providing a proper pre-marital genetic counselling and testing for a couple embarking on marriage from this highly consanguineous high-risk family

Humanos , Masculino , Feminino , Doenças Renais Císticas , Amaurose Congênita de Leber , Consanguinidade , Mutação/genética , Aconselhamento
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-84053


The primary cilium of renal epithelia acts as a transducer of extracellular stimuli. Polycystin (PC)1 is the protein encoded by the PKD1 gene that is responsible for the most common and severe form of autosomal dominant polycystic kidney disease (ADPKD). PC1 forms a complex with PC2 via their respective carboxy-terminal tails. Both proteins are expressed in the primary cilia. Mutations in either gene affect the normal architecture of renal tubules, giving rise to ADPKD. PC1 has been proposed as a receptor that modulates calcium signals via the PC2 channel protein. The effect of PC1 dosage has been described as the rate-limiting modulator of cystic disease. Reduced levels of PC1 or disruption of the balance in PC1/PC2 level can lead to the clinical features of ADPKD, without complete inactivation. Recent data show that ADPKD resulting from inactivation of polycystins can be markedly slowed if structurally intact cilia are also disrupted at the same time. Despite the fact that no single model or mechanism from these has been able to describe exclusively the pathogenesis of cystic kidney disease, these findings suggest the existence of a novel cilia-dependent, cyst-promoting pathway that is normally repressed by polycystin function. The results enable us to rethink our current understanding of genetics and cilia signaling pathways of ADPKD.

Cálcio , Cílios , Genética , Doenças Renais Císticas , Rim Policístico Autossômico Dominante , Transdutores , Canais de Cátion TRPP
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-114853


OBJECTIVE: The aim of our study was to evaluate the differences between sclerotherapy with and without ethanol concentration monitoring for the treatment of simple renal cysts. MATERIALS AND METHODS: Sixty-seven patients with 70 simple renal cysts were randomly assigned to two groups in a 12-month prospective controlled trial. One group (group A) was treated with computed tomography (CT)-guided sclerotherapy without ethanol concentration monitoring (33 patients with 35 cysts), whereas the other group (group B) had ethanol concentration monitoring (34 patients with 35 cysts) during the procedure. Treatment outcomes between the two groups were compared 12 months later with follow-up ultrasound examination. RESULTS: After the 12-month follow-up period, the overall success rate was 74.3% in group A and 94.3% in group B (p = 0.022). The mean cyst size before and after treatment was 8.6 +/- 2.0 cm and 2.3 +/- 2.9 cm, respectively, in group A, and 8.4 +/- 1.7 cm and 0.8 +/- 1.9 cm, respectively, in group B. The final size of the cysts in group B was significantly smaller than that in group A (p = 0.015). The likelihood of treatment with ethanol concentration monitoring being successful was approximately 16 times higher than without ethanol concentration monitoring (p = 0.026; odds ratio = 15.7; 95% confidence interval: 1.38-179.49). There were no major complications in either group. CONCLUSION: Monitoring of Hounsfield units (HU) of ethanol by CT is an effective method in the treatment of simple renal cysts with ethanol sclerotherapy. The ethanol sclerotherapy procedure can be terminated at the point of clear fluid aspiration because the HU (-190) of CT scan corresponds to it.

Adulto , Idoso , Idoso de 80 Anos ou mais , Cistos/diagnóstico por imagem , Monitoramento de Medicamentos , Etanol/administração & dosagem , Feminino , Humanos , Doenças Renais Císticas/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Radiografia Intervencionista/métodos , Soluções Esclerosantes/administração & dosagem , Escleroterapia/métodos , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento , Adulto Jovem
Neonatal Medicine ; : 64-68, 2014.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-43776


Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that is characterized by enlarged kidneys and congenital hepatic fibrosis. The clinical spectrum of this condition shows wide variation. Approximately 30-50% of affected individuals die in the neonatal period, while others survive into adulthood. ARPKD is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene on chromosome 6p12, which consists of 86 exons variably assembled into many alternatively spliced transcripts. We report a case of a pathogenic PKHD1 frameshift mutation, c.889_931del43, which was identified using direct full sequencing, associated with enlarged cystic kidneys and dilatation of intrahepatic bile duct, as observed on imaging studies.

Ductos Biliares Intra-Hepáticos , Dilatação , Éxons , Fibrose , Mutação da Fase de Leitura , Rim , Doenças Renais Císticas , Doenças Renais Policísticas , Rim Policístico Autossômico Recessivo
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-165832


Acquired cystic kidney disease (ACKD), a common complication in patients with end-stage renal disease, is characterized by more than three kidney cysts and normal or decreased sizes of both kidneys without any familial history of cystic kidney disease. In autosomal dominant polycystic kidney disease (ADPKD), however, both kidneys are usually enlarged. Extrarenal manifestations are common in ADPKD, including hepatic cysts, seminal vesicle cysts, mitral valve prolapse. A 40-year-old man presented to the emergency clinic at Inha University Hospital with severe abdominal pain, nausea, and vomiting for 3 days. He had been undergoing continuous ambulatory peritoneal dialysis (CAPD) for 15 years, but it was recently changed to hemodialysis owing to sclerosing encapsulating peritonitis (SEP). Radiologic imaging studies revealed bilateral enlarged kidneys with multiple eggshell calcified cysts and some hepatic cysts, which suggested ADPKD. He underwent left nephrectomy, and pathological tests revealed ACKD-associated renal cell carcinoma (RCC) confined to the resected kidney. He was treated with steroids for SEP, and the symptoms resolved. We herein report a case of ACKD-resembling ADPKD-that progressed to RCC in a patient with concurrent SEP who had been undergoing CAPD for 15 years.

Dor Abdominal , Adulto , Carcinoma de Células Renais , Emergências , Humanos , Rim , Doenças Renais Císticas , Falência Renal Crônica , Prolapso da Valva Mitral , Náusea , Nefrectomia , Diálise Peritoneal Ambulatorial Contínua , Peritonite , Rim Policístico Autossômico Dominante , Diálise Renal , Insuficiência Renal Crônica , Glândulas Seminais , Esteroides , Vômito
Chinese Journal of Pathology ; (12): 723-727, 2014.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-304405


<p><b>OBJECTIVE</b>To investigate the clinicopathological characteristics and the diagnosis of multilocular cystic renal cell carcinoma (MCRCC).</p><p><b>METHODS</b>The clinicopathological data of 19 MCRCC cases were collected and immunohistochemical staining assays were carried out. Forty-six cases of other cystic kidney lesions within the same period were collected as controls, including extensively cystic clear cell RCC (12 cases), clear cell tubulopapillary renal cell carcinoma (6 cases), tubulocystic carcinoma (2 cases), simple cortical cysts (22 cases), multilocular cystic nephroma (1 cases) and multicystic kidney (3 cases).</p><p><b>RESULTS</b>The patients included 14 males and 5 females. The ages ranged from 31 to 66 years (median age = 50 years). Most of the MCRCC cases were detected incidentally in physical examination, occasionally accompanied with hematuria, back pain or other symptoms. The follow-up period of 17 patients ranged from 6 to 170 months. All patients were alive without evidence of tumor recurrence or metastasis. Pathological findings showed that macroscopically, tumor size ranges from 1.5 to 7.0 cm in the maximum diameter, generally a entirely of various sized. The cysts contain serous, hemorrhagic or turbid fluid. Solid areas or substantially discernible mural nodules were absent; histologicallly, single layer of cuboidal and flattened epithelial tumor cells were lined in the cysts, described as clear cytoplasm, small nuclear, no nucleoli and low Fuhrman nuclear grade (I or II). Multilayer tumor cells could be observed in a few cysts, with granular cytoplasm and small intracystic papillae formed. The clear tumor cell clusters, similar as cystic lined tumor cells, were seen within pathological fibrous in almost all cases, and significant myofibroblastic proliferation was found in 14 cases. Immunohistochemically, the cysts lined epithelial cells and the clear tumor cell clusters were positive for epithelium markers, including CKpan(19/19), EMA(16/19) and CK7 (15/19); higher percentage of CAIX (17/19) and PAX8(15/19) than control groups, but lower percentage of CD10 (7/19), RCC (6/19) and AMACR(2/19); and all were negative for 34βE12, CD117 and CD68.</p><p><b>CONCLUSIONS</b>Multilocular cysts, clear cells clusters of low Fuhrman grade within fibrous septa and capillary vessel proliferation under epithelium are important features of MCRCC. The united using of CAIX, CK7, CD10 and RCC is helpful for differentiating variable cystic renal tumor. MCRCC usually has an excellent prognosis, nephron sparing surgery is first recommended as a therapeutic strategy.</p>

Adenocarcinoma de Células Claras , Metabolismo , Patologia , Biomarcadores , Carcinoma de Células Renais , Metabolismo , Patologia , Cistos , Metabolismo , Patologia , Diagnóstico Diferencial , Feminino , Humanos , Doenças Renais Císticas , Metabolismo , Patologia , Neoplasias Renais , Metabolismo , Patologia , Masculino , Recidiva Local de Neoplasia , Prognóstico , Racemases e Epimerases , Metabolismo
Rev. cuba. pediatr ; 85(2): 258-264, abr.-jun. 2013.
Artigo em Espanhol | LILACS (Américas) | ID: lil-678138


La nefropatía C1q es una glomerulopatía no comprendida completamente y con algunas controversias conceptuales, pero con característica inmunológica distintiva (depósito dominante o co-dominante de C1q) y no evidencia clínica ni serológica de lupus eritematoso sistémico. Se presenta paciente masculino que comienza a los 10 meses de edad con un síndrome nefrótico con hematuria, hipertensión arterial e insuficiencia renal. Se realiza una primera biopsia renal y se plantea una esclerosis mesangial difusa, pero su evolución posterior con respuesta parcial a la prednisona y el mantenimiento de proteinuria en rango nefrótico con normalización de los parámetros humorales, nos lleva a realizar una segunda biopsia renal que arroja, por la inmunofluorescencia, una nefropatía C1q

C1q nephropathy is a poorly understood glomerulopathy with some conceptual controversies, but with a distinctive immunologic characteristic (dominant or co-dominant deposit of C1q) and neither clinical nor serological evidence of systemic erythematous lupus. This is the case of a male patient who began suffering nephritic syndrome with hematuria, blood hypertension and renal failure at 10 months of age. A first renal biopsy was performed to detect diffuse mesangeal sclerosis; however after partial response of the patient to prednisone therapy and to maintenance treatment of proteinuria in nephritic range, with normalization of humoral parameters, then a second renal biopsy was performed with immunofluorescence. The final result was C1q nephropathy

Humanos , Masculino , Doenças Renais Císticas/complicações , Rim/patologia , Cuba/epidemiologia
J. bras. nefrol ; 35(2): 162-164, abr.-jun. 2013. ilus
Artigo em Português | LILACS (Américas) | ID: lil-678232


A hemorragia perirrenal espontânea apresenta-se mais comumente como dor súbita no flanco ipsilateral, sem história de trauma. A doença renal cística adquirida é um achado frequente em pacientes sob tratamento hemodialítico crônico. Entretanto, a hemorragia espontânea proveniente da ruptura dos cistos é uma entidade clínica rara. Descrevemos o caso de uma paciente do sexo feminino, 45 anos, portadora de hipertensão arterial sistêmica controlada há 8 anos, de insuficiência renal crônica por 15 anos e de nefrite lúpica há 2 anos, em tratamento hemodialítico três vezes por semana desde 2006, e que apresentava concomitantemente doença renal cística adquirida. Foi admitida no setor de emergência queixando-se de aparecimento súbito de dor em região toracoabdominal esquerda. Diagnosticou-se hematoma perirrenal por meio de ultrassonografia e tomografia computadorizada de abdômen. A paciente foi submetida à embolização da artéria renal esquerda, com boa evolução.

The spontaneous perirenal hemorrhage usually presents as sudden pain in the side ipsilateral, no history of trauma. Acquired cystic kidney disease is a common finding in chronic hemodialysis patients. However, spontaneous bleeding from the rupture of the cyst is a rare clinical entity. We describe the case of a female patient, 45 years old, with controlled hypertension for 8 years, chronic renal failure for 15 years and lupus nephritis 2 years ago, undergoing hemodialysis three times a week since 2006, and who presented concurrently acquired cystic kidney disease. She was admitted to the emergency department complaining of sudden onset of pain in the thoraco-abdominal left. Perirenal hematoma was diagnosed by ultrasound and computed tomography of the abdomen. The patient underwent embolization of left renal artery, with good evolution.

Feminino , Humanos , Pessoa de Meia-Idade , Hematoma/etiologia , Doenças Renais Císticas/complicações , Nefrite Lúpica/complicações , Diálise Renal , Nefropatias/etiologia