Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome.@*METHODS@#Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2.@*RESULTS@#The proband of pedigree 1 was a fetus at 23+5 weeks gestation, for which both ultrasound and MRI showed "cerebellar vermis malformation" and "molar tooth sign". No apparent abnormality was noted in the fetus after elected abortion. The fetus was found to harbor c.812+3G>T and c.1828G>C compound heterozygous variants of the INPP5E gene, which have been associated with Joubert syndrome type 1. The proband from pedigree 2 had growth retardation, mental deficiency, peculiar facial features, low muscle tone and postaxial polydactyly of right foot. MRI also revealed "cerebellar dysplasia" and "molar tooth sign". The proband was found to harbor c.485C>G and c.1878+1G>A compound heterozygous variants of the ARMC9 gene, which have been associated with Joubert syndrome type 30. Prenatal diagnosis found that the fetus only carried the c.485C>G variant. A healthy infant was born, and no anomalies was found during the follow-up.@*CONCLUSION@#The compound heterozygous variants of the INPP5E and ARMC9 genes probably underlay the disease in the two pedigrees. Above finding has expanded the spectrum of pathogenic variants underlying Joubert syndrome and provided a basis for genetic counseling and prenatal diagnosis.

Clinical and genetic analyses of Joubert syndrome in children / 中国当代儿科杂志

OBJECTIVES@#To study the clinical and genetic features of Joubert syndrome (JS) in children.@*METHODS@#A retrospective analysis was performed on the clinical data, genetic data, and follow-up data of 20 children who were diagnosed with JS in the Department of Children's Rehabilitation, the Third Affiliated Hospital of Zhengzhou University, from January 2017 to July 2022.@*RESULTS@#Among the 20 children with JS, there were 11 boys and 9 girls. The common clinical manifestations were developmental delay (20 children, 100%), abnormal eye movement (19 children, 95%), and hypotonia (16 children, 80%), followed by abnormal respiratory rhythm in 5 children (25%) and unusual facies (including prominent forehead, low-set ears, and triangular mouth) in 3 children (15%), and no limb deformity was observed. All 20 children (100%) had the typical "molar tooth sign" and "midline cleft syndrome" on head images, and 6 children (30%) had abnormal eye examination results. Genetic testing was performed on 7 children and revealed 6 pathogenic genes, i.e., the CPLANE1, RPGRIP1L, MKS1, CC2D2A, CEP120, and AHI1 genes.@*CONCLUSIONS@#For children with developmental delay, especially those with abnormal eye movement and hypotonia, it is recommended to perform a head imaging examination to determine the presence or absence of "molar tooth sign" and "midline cleft syndrome", so as to screen for JS to avoid missed diagnosis and misdiagnosis. There are many pathogenic genes for JS, and whole-exome sequencing can assist in the diagnosis of JS.

Nefronoptisis: reporte de un caso pediátrico / Nephronophthisis: a pediatric case report

La nefronoptisis es una enfermedad renal quística, de herencia autosómica recesiva, causada por mutaciones en genes que codifican proteínas involucradas en la función de cilios primarios, lo que resulta en enfermedad renal y manifestaciones extrarrenales como degeneración retiniana y fibrosis hepática. Según la edad de desarrollo de enfermedad renal crónica terminal, se describen tres formas clínicas de presentación: infantil, juvenil y adolescente. El diagnóstico se realiza por una prueba genética positiva o una biopsia de riñón que demuestre cambios tubulointersticiales crónicos con un engrosamiento de las membranas basales tubulares. No existe hasta la actualidad una terapia curativa, por lo que el trasplante renal oportuno es determinante en cuanto al pronóstico. Se presenta un paciente de 13 meses de edad con poliuria de 3 meses de evolución, insuficiencia renal, anemia y elevación de transaminasas. Con hallazgos histológicos compatibles en la biopsia renal, se arribó al diagnóstico de nefronoptisis infantil, con afectación hepática

Nephronophthisis is an autosomal recessive cystic kidney disease caused by mutations in genes that encode proteins involved in the primary cilia function, resulting in kidney disease and extrarenal manifestations such as retinal degeneration and liver fibrosis. According to the age of development of end-stage chronic kidney disease, three clinical forms of presentation are described: infantile, juvenile and adolescent. Diagnosis is made by a positive genetic test, or a kidney biopsy demonstrating chronic tubulointerstitial changes with thickening of the tubular basement membranes. At the moment there is no healing therapy, so early kidney transplant is a fundamental tool to improve prognosis.We present a 13-month old male patient with polyuria, kidney failure, anemia and elevated aminotransferases over three months. With compatible histological kidney biopsy, the diagnosis of infantile nephronophthisis with liver involvement was reached.

Enlarged multicystic dysplastic kidneys with oligohydramnios during infancy caused by NPHP3 gene mutation / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genomic abnorm ality of a fetus enlarged multicystic dysplastic kidneys with oligohydramnios caused by NPHP3 gene mutation.@*METHODS@#The fetuse was found to have multicystic dysplastic kidneys with oligohydramnios upon ultrasonography during the second trimester. Following induced abortion, fetal tissue was collected for the extraction of DNA, chromosomal microarray analysis (CMA) and whole exome sequencing (WES). Sanger sequencing was used to verify the suspected variants in the family.@*RESULTS@#Antenatal ultrasound examination at 19 weeks showed "polycystic" kidneys with Oligohydramnios. Delivery was by induced labour because of the critically low amniotic fluid volume. Testing of CMA was normal. WES showed a compound heterozygous mutation of c.1817G>A, p.W606X; c.432dupA, p.E145Rfs*18 mutations are novel mutations in this study.@*CONCLUSION@#The research may further expand the NPHP3 gene mutation spectrum. Enlarged multicystic dysplastic kidneys with oligohydramnios caused by NPHP3 gene mutation at least include one or two splice site mutation, frameshift mutation or nonsense mutation foetal poor prognosis.

Phenotype and genotype analysis of a pedigree affected with Joubert syndrome due to variant of TMEM237 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the pathogenesis of two siblings (including a fetus) from a pedigree affected with Joubert syndrome.@*METHODS@#Peripheral blood samples of the proband and his parents as well as amniotic fluid and abortion tissues of the fetus were collected. Part of the samples were used for the extraction of DNA, and whole exome sequencing (WES) was carried out to screen potential variants in the proband and his parents. Suspected variants were subjected to bioinformatics analysis with consideration of the clinical phenotype, and were verified by Sanger sequencing of the proband, fetus and their parents.The remainders were used for the extraction of RNA, and the mechanism of splicing variant was validated by reverse transcription-PCR (RT-PCR).@*RESULTS@#WES showed that both patients have carried c.175C>T (p.R59X) and c.553+1G>A compound heterozygous variants of the TMEM237 gene. Among these, c.175C>T was a nonsense mutation inherited from the asymptomatic mother, while c.553+1G>A was an alternative splicing mutation inherited from the asymptomatic father. RT-PCR showed that this variant has resulted in aberrant splicing by exon skipping.@*CONCLUSION@#The compound heterozygous variants of the TMEM237 gene probably underlay the etiology of Joubert syndrome in this pedigree. Above finding has enriched the phenotype and variant spectrum of the TMEM237 gene, and facilitated genetic counseling and prenatal diagnosis for the family.

Phenotypic analysis and variant identification of a fetus with Joubert syndrome 17 / 中华医学遗传学杂志

OBJECTIVE@#To analyze the phenotype and genetic variant of a fetus with dysplasia of cerebellar vermis.@*METHODS@#Gestational status and family history of the gravida was taken in combination with the imaging results of the fetus. Following elected abortion, fetal tissue and peripheral blood samples of the couple were collected for the extraction of genome DNA. Whole exome sequencing was carried out to screen potential variant associated with the phenotype of the proband. Specific PCR primers were designed to verify the results by Sanger sequencing.@*RESULTS@#Prenatal ultrasound revealed that the fetal vermis cerebellum was poorly developed, which was similar to the previous pregnancy. Whole exome sequencing revealed that the fetus has carried compound heterozygous variants of the CPLANE1 gene, namely c.7978C>T and c.7169delT, which were respectively inherited from the husband and wife.@*CONCLUSION@#The c.7978C>T and c.7169delT compound heterozygous variants of the CPLANE1 gene probably underlay the dysplasia of cerebellar vermis in the fetus, which has provided a basis for genetic counseling and prenatal diagnosis.

Síndrome de Wünderlich asociado a hemodiálisis / Wünderlich syndrome associated with hemodialysis

INTRODUCCIÓN. El Síndrome de Wunderlich es un hallazgo infrecuente en la práctica urológica, se caracteriza por dolor lumboabdominal intenso, inestabilidad hemodinámica y masa palpable en flanco ipsilateral (Triada de Lenk). En la mayoría de casos, la etiología es de origen tumoral (Angiomiolipoma); así como discrasias sanguíneas y enfermedad renal quística adquirida, considerada como factor de riesgo para que ocurra hemorragia espontánea en pacientes con hemodiálisis a largo plazo. La tomografía computarizada es el examen de imagen estándar para el diagnóstico; el tratamiento va desde el manejo conservador hasta nefrectomía de emergencia. CASO CLÍNICO. Paciente masculino de 29 años con antecedentes de Hidrocefalia y Enfermedad Renal Crónica estadio IV, en tratamiento con Hemodiálisis. Acudió por dolor abdominal y descenso de valores de he-moglobina. RESULTADOS. En Urotomografía simple/contrastada se reportó hematoma retroperitoneal, por lo que se realizó una nefrectomía simple, se encontró un hematoma más trauma renal grado V. El paciente falleció en el posquirúrgico. DISCUSIÓN. Se han reportado algunos casos de Síndrome de Wunderlich relacionados a hemodiálisis que se acompañaron de dolor abdominal intenso, y se sospechó de esta patología. CONCLU-SIÓN. El diagnóstico temprano y tratamiento oportuno en el Síndrome de Wünderlich fue crucial para el manejo médico del paciente.

INTRODUCTION. Wunderlich Syndrome is an infrequent finding in urological practi-ce, it ́s characterized by intense lumbo-abdominal pain, hemodynamic instability and palpable mass in the ipsilateral flank (Lenk's Triad). In most cases, the etiology is of tumor origin (Angiomyolipoma); as well as blood dyscrasias and acquired cystic kidney disease, considered a risk factor for spontaneous bleeding in patients with long-term hemodialysis. Computed tomography is the standard imaging test for diag-nosis; Treatment ranges from conservative management to emergency nephrectomy. CLINICAL CASE. 29-year-old male patient with a history of Stage IV Hydrocephalus and Chronic Kidney Disease, undergoing treatment with hemodialysis. He came for abdominal pain and decreased hemoglobin values. RESULTS. A simple / contrasted urotomography revealed retroperitoneal hematoma, for which a simple nephrectomy was performed, a hematoma plus grade V renal trauma was found. The patient died postoperatively. DISCUSSION. Some cases of Wunderlich Syndrome related to he-modialysis that were accompanied by severe abdominal pain have been reported, and this pathology was suspected. CONCLUSION. Early diagnosis and timely treat-ment in Wünderlich Syndrome was crucial for the medical management of the patient.

Anestesia total intravenosa libre de opioides en un paciente con síndrome de Joubert: caso clínico / Opioid free total intravenous anesthesia in Joubert syndrome: Case report

Joubert syndrome (JS) is a rare autosomal recessive disorder characterized by abnormal eye movements, respiratory pattern abnormalities, anatomical airway alterations, mental retardation and hypoplasia/aplasia of the cerebellar vermis confirmed by magnetic resonance imaging. This case report describes the successful management of a patient with JS operated of cholesteatoma under 100% opioid-free total intravenous general anaesthesia. We also provide a brief review of JS, its anaesthetic implications and opioid-free anaesthesia (OFA) technique.

El síndrome de Joubert (SJ) es una enfermedad autosómica recesiva poco frecuente caracterizada por trastornos oculares, respiratorios, alteraciones anatómicas de la vía aérea, retraso mental e hipoplasia/aplasia del vermis cerebeloso constatada mediante resonancia magnética. Presentamos un caso exitoso de paciente con SJ operado de colesteatoma bajo anestesia general endovenosa total 100% libre de opioides. Asimismo, realizamos una breve revisión del SJ, sus implicaciones anestésicas y de la técnica de anestesia libre de opioides.

Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome / 中华医学遗传学杂志

OBJECTIVE@#To identify pathogenic variants in two families with patients suspected for Joubert syndrome(UBST) by cerebellar vermis hypoplasia.@*METHODS@#Clinical data and peripheral venous blood and skin tissue samples were collected for the extraction of genomic DNA. Potential variants were screened by using targeted capture and next generation sequencing. Suspected variants were validated by PCR and Sanger sequencing. The frequency of the variants in the population was calculated. Pathogenicity of the variants was predicted by following the guidelines of the American College of Medical Genetics and Genomics (ACMG). Prenatal diagnosis was provided to these families upon subsequent pregnancy.@*RESULTS@#The proband of family 1 was found to harbor homozygous c.2072delT (p.F691S*fs19) frameshift variant of the AHI1 gene, which may cause premature termination of translation of the Abelson helper integration site 1 after the 691st amino acid. The proband of family 2 was found to harbor compound heterozygous variants of the CPLANE1 gene, namely c.7243dupA (p.T2415Nfs*7) and c.8001delG (p.K2667Nfs*31), which can respectively lead to premature termination of translation of ciliogenesis and planar polarity effector 1 after the 2145th and 2667th amino acids. All of the three variants were previously unreported, and were predicted to be pathogenic by bioinformatic analysis.@*CONCLUSION@#The AHI1 c.2072delT and CPLANE1 c.7243dupA and c.8001delG variants probably underlay JBTS3 in family 1 and JBTS17 in family 2, respectively. Based on above results, prenatal diagnosis may be offered to the affected families upon their subsequent pregnancies.

Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia

ABSTRACT Objective To verify the presence of variants in HNF1B in a sample of the Brazilian population selected according to the presence of renal cysts associated with hyperglycemia. Subjects and methods We evaluated 28 unrelated patients with clinical suspicion of HNF1B mutation because of the concomitant presence of diabetes mellitus (DM) or prediabetes and renal cysts. Genotyping was accomplished using Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA). In positive cases, available relatives were recruited. Results We found two patients with HNF1B mutations. The first presented the variant p.Pro328Leufs*48(c.983delC) and had DM, renal cysts, and hypomagnesemia. The second presented a heterozygous whole gene deletion in HNF1B, DM, renal cysts, body and tail pancreatic agenesis, and hypomagnesemia; this alteration was also found in his two siblings and his father. Conclusion The recruitment of suspected cases of HNF1B gene mutations in Brazilians due to hyperglycemia and renal cysts presents two positive cases. Our cases contribute to the annotation of clinical and biochemical phenotypes of this rare form of maturity-onset diabetes of the young (MODY).

Hidronefrosis como causa de poliglobulia secundaria / Hydronephrosis as a cause of secondary polyglobulia

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)

Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing / 中华医学遗传学杂志

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.

Clinical features and TTC21B genotype of a child with nephronophthisis type 12 / 中国当代儿科杂志

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.

La laparoscopía el nuevo estándar de oro para el tratamiento de quistes renales simples sintomáticos / Laparoscopy the new gold standard for the treatment simple symptomatic renal cysts

más frecuentes del riñón. Su tratamiento consiste en la exploración quirúrgica y marsupialización. La cirugía laparoscópica permite una mejor disección, exploración e identificación de la anatomía con trauma mínimo del paciente. OBJETIVO. Mostrar la experiencia en el tratamiento quirúrgico laparoscópico mínimamente invasivo del quiste renal simple sintomático. MATERIALES Y MÉTODOS. Estudio retrospectivo del tratamiento laparoscópico transperitoneal, se evaluó la seguridad de la técnica, complicaciones perioperatorias y resultados clínicos en el transcurso de un año. Se estudió 8 pacientes: 4 mujeres y 4 hombres, con diagnóstico de quistes renales simples sintomáticos, atendidos por el Servicio de Urología del Hospital de Especialidades Carlos Andrade Marín de Quito, Ecuador. CASOS CLÍNICOS. Se registró edad, sexo, antecedentes patológicos personales, comorbilidades, historia familiar, examen físico completo, exámenes de imagen y de laboratorio. RESULTADOS. La media de la edad fue de 57 años con un intervalo entre 39 y 77 años. La indicación de cirugía fue dolor en región lumbar ipsilateral, que no respondieron a los analgésicos convencionales. El tamaño de los quistes osciló entre 7-10 cm de diámetro. El tiempo operatorio medio fue de 71 minutos sin requerir conversión a cirugía abierta. Los pacientes fueron dados de alta en los primeros cinco días del postoperatorio y los drenajes extraídos dentro del primer día. CONCLUSIÓN. El tratamiento laparoscópico de quistes renales simples sintomáticos por vía transperitoneal fue exitoso en todos los casos. El abordaje permitió la extirpación de los quistes, con menor morbilidad, y con un mejor confort postoperatorio para los pacientes.

kidney. Its treatment consists of surgical exploration and marsupialization. Laparoscopic surgery allows a better dissection, exploration and identification of the anatomy with minimal patient trauma. OBJECTIVE. To show the experience in the minimally invasive laparoscopic surgical treatment of the symptomatic simple renal cyst. MATERIALS AND METHODS. Retrospective study of transperitoneal laparoscopic treatment, the safety of the technique, perioperative complications and clinical results over the course of a year were evaluated. 8 patients were studied: 4 women and 4 men, with diagnosis of symptomatic simple renal cysts, attended by the Urology Service of the Carlos Andrade Marín Specialty Hospital of Quito, Ecuador. CLINICAL CASES. Age, sex, personal pathological history, comorbidities, family history, complete physical examination, image and laboratory tests were recorded. RESULTS. The mean age was 57 years with an interval between 39 and 77 years. The indication for surgery was pain in the ipsilateral lumbar region, which did not respond to conventional analgesics. The size of the cysts ranged between 7-10 cm in diameter. The mean operative time was 71 minutes without requiring conversion to open surgery. The patients were discharged in the first five days of the postoperative period and the drains extracted within the first day. CONCLUSION. The laparoscopic treatment of simple symptomatic renal cysts by the transperitoneal route was successful in all cases. The approach allowed the removal of the cysts, with less morbidity, and with a better postoperative comfort for the patients.

Simultaneous treatment of parapelvic renal cysts and stones by flexible ureterorenoscopy with a novel four-step cyst localization strategy

ABSTRACT Objective: To assess the safety, feasibility, and efficacy of simultaneous treatment of parapelvic renal cysts and stones by flexible ureterorenoscopy with a novel four-step cyst localization strategy in selected patients. Patients and Methods: We retrospectively reviewed 11 consecutive cases of parapelvic renal cysts with concomitant calculi treated by flexible ureterorenoscopy and laser lithotripsy (FURSL). Marsupialization was performed subsequently with holmium: YAG laser in our institution. Fragmentation was used to manage renal stones and a novel four-step cyst localization strategy was applied in each case for marsupialization. Results: There were no intraoperative complications. Two cases of cystitis were reported postoperatively. The mean operative times of FURSL and marsupialization were 23.6 ± 3.9 minutes and 29.1 ± 9.7 minutes, respectively. During marsupialization, seven patients underwent the first two steps of the new strategy, two patients underwent three steps and two patients underwent all four steps. The mean reduction in hemoglobin level was 4.7 ± 1.7 g / L (range 3-8 g / L). The mean length of hospital stay was 1.2 ± 0.4 days. During a mean follow-up duration of 18 months, all cases remained stone-free and there was no stone recurrence. Parapelvic cysts became undetectable in eight cases and decreased in size by at least half in three cases. Conclusion: With appropriate patient selection, FURSL and marsupialization with a four-step cyst localization strategy is feasible, safe, and effective in treating parapelvic renal cysts with concomitant calculi.

Doença cística adventicial da artéria radial / Adventitial cystic disease of the radial artery

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.

Nefroblastoma quístico parcialmente diferenciado: Reporte de caso / Cystic partially differentiated nephroblastoma: Case report

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)

Acquired cystic kidney disease in allograft with long-standing poor function / Doença renal cística adquirida em um enxerto cronicamente disfuncional

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.

Association between renal cysts and abdominal aortic aneurysm: A case-control study / Associação entre cistos renais e aneurismas da aorta abdominal: Um estudo de caso-controle

Summary Objective: To investigate the positive association between the presence of simple renal cysts (SRCs) and abdominal aortic aneurysm (AAA). Method: In a retrospective case-control study including subjects aged > 50 years, we evaluated the incidence of SRCs on computed tomography (CT) scan. We compared 91 consecutive patients with AAA referred from the Division of Vascular Surgery and 396 patients without AAA, randomly selected after being matched by age and gender from 3,186 consecutive patients who underwent abdominal CT. SRC was defined as a round or oval low-attenuation lesion with a thin wall and size > 4 mm on CT without obvious evidence of radiographic enhancement or septations. Patients were considered as having AAA if the size of aorta was greater than 3.0 cm. Results: Patients with AAA and without AAA were similar in terms of age (67.9± 8.41 vs. 68.5±9.13 years) (p=0.889) and gender (71.4 vs. 71.2% of male subjects, respectively) (p=0.999). There was no difference in the prevalence of SRC between case and controls. Among individuals with AAA, 38 (41.8%; [95CI 32.5-52.6]) had renal cysts compared to 148 (37.4%; [95CI 32.7-42.2]) in the control group (p=0.473), with a prevalence ratio (PR) of 1.16 (95CI 0.80-1.68). Conclusion: We found no significant differences in the prevalence of SRCs among patients with AAA and controls. Our findings suggest that the presence of SRCs is not a risk factor or a marker for AAA.

Resumo Objetivo: Avaliar uma possível associação entre presença de cistos renais simples (CRS) e aneurisma aórtico abdominal (AAA). Método: Em um estudo de caso versus controle com sujeitos com idade > 50 anos, avaliamos a prevalência de CRS detectados por tomografia computadorizada (TC). Comparamos os achados de 91 pacientes consecutivos com AAA oriundos da Divisão de Cirurgia Vascular com 396 pacientes sem AAA, randomicamente selecionados e ajustados por idade e gênero dentre 3.186 pacientes consecutivos que se submeteram a TC abdominal. Cisto simples foi definido como lesão hipodensa oval ou arredondada com paredes finas, maiores do que 4 mm em TC sem realce contrastual ou septação. Pacientes foram considerados com AAA quando o diâmetro da aorta era maior que 3,0 cm. Resultados: Pacientes com AAA e sem AAA eram semelhantes quanto a idade (67,9±8,41 vs. 68,5±9,13 anos) (p=0,889) e gênero (71,4 vs. 71,2% dos indivíduos masculinos, respectivamente) (p=0,999). Não havia diferença de prevalência de CRS entre casos e controles. Dentre indivíduos com AAA, 38 (41,8%; [IC95% 32,5-52,6]) tinham cistos renais, comparados com 148 (37,4%; [IC95% 32,7-42,2]) no grupo controle (p=0,473), com uma razão de prevalência (RP) de 1,16 (IC95% 0,80-1,68). Conclusão: Não observamos diferenças significativas na prevalência de CRS entre pacientes com AAA e controles. Nossos resultados sugerem que presença de CRS não é fator de risco ou preditor para AAA.