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).

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.

Linguagem, comportamento e neurodesenvolvimento na Síndrome de Joubert: relato de caso / Language, behavior and neurodevelopment in Joubert syndrome: a case report

RESUMO A síndrome de Joubert (SJ) é uma condição genética heterogênea, rara, do grupo das ciliopatias. Mais de 20 genes foram identificados relacionados com este fenótipo. As principais manifestações incluem hipotonia, ataxia, atraso psicomotor, apraxia oculomotora e anormalidades respiratórias neonatais. O objetivo deste artigo foi apresentar achados de linguagem e neurodesenvolvimento de um indivíduo com diagnóstico da SJ. Foi realizada a anamnese, avaliação genética clínica, observação do comportamento comunicativo, avaliação da linguagem, o Teste de Screening de Desenvolvimento Denver-II (TSDD-II) e a Early Language Milestone Scale (ELMS). Os principais achados da Ressonância Magnética do encéfalo mostraram grave hipoplasia do vérmis cerebelar, “sinal do dente molar”, tronco cerebral hipoplásico, atrofia dos hemisférios cerebelares. A avaliação da linguagem mostrou ausência de oralidade, prejuízo na recepção da linguagem, confirmando o diagnóstico de transtorno de linguagem, com grau de comprometimento grave. O TSDD-II e a ELMS comprovaram a observação e avaliação clínica e indicaram atraso grave nos domínios motor, autocuidados e de linguagem receptiva e expressiva. Diante da presença de hipotonia, ataxia, atraso psicomotor e anormalidades respiratórias neonatais é imprescindível a realização de exame por imagem e avaliação genética para o diagnóstico desta condição, tão complexa, com necessidades terapêuticas peculiares. Este conjunto de achados, associado à história familial e características fenotípicas peculiares reforçam o diagnóstico genético clínico da SJ. Esta síndrome genética é pouco reconhecida e merece ser apresentada para o reconhecimento da comunidade científica, visando o diagnóstico correto e planejamento terapêutico que minimize os efeitos deletérios desta condição.

ABSTRACT The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, psychomotor retardation, ocular-motor apraxia and neonatal respiratory abnormalities. The objective of this paper was to present language and neurodevelopmental findings of an individual diagnosed with JS. The following procedures were performed: anamnesis, clinical genetic evaluation observation of communicative behavior, evaluation of language, the Denver Developmental Screening Test II (DDST-II) and the Early Language Milestone Scale (ELMS). The main findings of the MRI brain showed severe hypoplasia of the cerebellar vermis, “molar tooth sign”, hypoplastic brain stem and atrophy of the cerebellar hemispheres. The observation and evaluation of the language showed no oral, impaired reception of language, confirming the diagnosis of language disorder with severe degree of impairment. The DDST-II and the ELMS confirmed the observation and clinical assessment and indicated serious delay in motor domains, self-care and receptive and expressive language. Given the presence of hypotonia, ataxia, delayed psychomotor and neonatal respiratory abnormalities it is essential to carry out examination imaging and genetic evaluation for the diagnosis of this condition, so complex, with unique therapeutic needs. This set of findings, along with the familial history and unique phenotypic characteristics reinforce the clinical genetic diagnosis JS. This genetic syndrome is rarely recognized and deserves to be presented to the recognition of the scientific community, targeting the correct diagnosis and treatment planning that minimizes the deleterious effects of this condition.

Primer caso registrado en Cuba de nefropatía C1q / First case of C1q nephropathy in Cuba

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

Hematoma perirrenal espontâneo em paciente lúpica submetida a tratamento hemodialítico e portadora cistos renais adquiridos / Spontaneous perirenal hematoma in a lupic patient on haemodialysis treatment and with renal cysts

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.

Evaluation of acquired cystic kidney disease in patients on hemodialysis with ultrasonography

Acquired cystic kidney disease [ACKD] occurs in patients with prolonged uremia, and early detection is important, because clinically significant complications, especially renal cell carcinoma, are associated with ACKD. In a cross-sectional study, we evaluated our patients on hemodialysis, in Ahvaz, Iran, using ultrasonography. The criteria for the diagnosis of ACKD were the presence of at least 4 bilateral renal cysts in patients with noncystic primary kidney diseases as the leading cause of kidney failure. A total of 148 patients [95 men and 53 women] were included in the study. The prevalence of ACKD was 20.3% [18.9% in men and 22.6% in women]. The mean age in patients with and without ACKD was 60.6 +/- 16.8 years and 53.6 +/- 14.9 years, and the mean hemodialysis duration was 44.2 +/- 18.7 months and 34.3 +/- 23.5 months, respectively. There were no significant differences in the frequency of ACKD in the men and the women [P = .59] and in the etiology of end-stage renal disease [P = .64]. It was significantly more likely to see ACKD in patients with a history of 3 years or longer being on hemodialysis than in those with a shorter dialysis duration [P = .001]. Acquired cystic kidney disease is common in patients on hemodialysis, and we suggest that renal ultrasonography be performed in patients with 3 years or more history of being on renal replacement therapy

Quiste renal infectado: caso clínico y revisión de la literatura / Renal cyst infected: case report and revision

We describe a case of a 29 years old woman with an infected simple renal cyst in which no etiologic agent was found. The diagnose was made by cystic fluid aspiration. Antibiotic therapy by itself was not enough to control the infection and a percutaneous drainage was performed with rapidly normalization of the inflammatory parameters. The case is presented and a literature review on simple renal cyst is made.

Glomerulocystic disease.

We report a 9 month old girl with renal failure. The kidneys were of normal size with increased echogenecity. Kidney biopsy showed features suggestive of glomerulocystic disease. The patient is on conservative management.

Enfermedad renal quística adquirida que simula una poliquistosis renal del adulto en un paciente en hemodiálisis crónica / Acquired cystic kidney disease mimicking adult polycystic kidney disease in a patient undergoing chronic hemodialysis

Se presentó la evolución clínica de un paciente de 59 años de edad en hemodiálisis desde el año 1994, que llega a la insuficiencia renal crónica (IRC) terminal por la vía aparente de la hipertensión arterial, que luego de 11 años en el proceder dialítico desarrolla un aumento de tamaño de los riñones con grandes quistes, cuyo aspecto en la ecografía y en la tomografía es indistinguible de una poliquistosis renal dominante del adulto

Hipertensäo arterial associada a cisto renal único / Arterial hypertension associeted to single cyst of kidney

Cisto renal único pode provavelmente causar hipertensäo arterial por compressäo da vasculatura renal levando a uma isquemia tecidual segmentar com ativaçäo do sistema renina-angiotensina. Uma mulher de 41 anos com um cisto renal, situado no polo inferior esquerdo, apresentava pressäo arterial de 170 x 110 mmHg sem medicaçao e de 150 x 100 mmHg com agentes anti-hipertensivos, sendo de difícil controle. Reduçäo da PAD em 15,5 por cento após 3 dias de captopril 50 mg, duas vezes ao dia. Removido o cisto renal sua pressäo arterial tornou-se normal (120 x 85 mmHg) persistentemente e sem uso de medicaçäo anti-hipertensiva após dois anos e meio de seguimento.

Cistos renais benignos causando obstruçäo de vias excretoras / Benign renal cysts causing obstruction of the collecting system

Apresenta-se três casos de cistos renais benignos causando obstruçäo de via excretora que foram tratados com a marsupializaçäo dos cistos. Todos os pacientes ficaram curados