Kidney abnormalities in Hajdu-Cheney syndrome

Barakat, Amin J.; Saba, Christine; Rennert, Owen M.

doi:10.1007/s004670050196

Cited by 13 publications

(16 citation statements)

References 27 publications

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“…This may be an underestimate since most patients are asymptomatic at the time of diagnosis and the presence of renal disease can only be revealed with active investigations of the urinary tract, which was not done in the older reports. Polycystic disease, hypodysplasia, vesicoureteral reflux, glomerulonephritis, hypertension, and CKD may be part of HJCYS .…”

Section: Discussionmentioning

confidence: 83%

“…Renal abnormalities may be associated with HJCYS, including multiple renal cysts . However, only few reports on end‐stage renal disease (ESRD) exist and ESRD was reported to occur in adolescence or adulthood . This is the first report with early onset of ESRD in an infant with HJCYS who also developed refractory anemia as a possible manifestation of aberrant Notch signaling.…”

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confidence: 95%

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End‐Stage Renal Disease in an Infant With Hajdu‐Cheney Syndrome

et al. 2016

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Hajdu-Cheney syndrome (HJCYS) is a rare, autosomal dominant, skeletal disorder caused by mutations in the NOTCH2 signaling pathway for which genetic testing has recently become available. Renal abnormalities are associated in at least 10% of cases. We present an 8-year-old Caucasian boy, born with multiple dysmorphic features consistent with HJCYS. Imaging of the urinary tract revealed bilateral cystic dysplastic kidneys with associated vesicoureteral reflux. Renal function has been impaired since birth and deteriorated progressively to end-stage renal disease (ESRD) by the age of two and a half years, when peritoneal dialysis was initiated and only recently renal transplantation was performed. Additional congenital abnormalities and multisystem involvement in HJCYS further complicated management, and he developed refractory anemia. Molecular diagnosis was confirmed by identification of a truncating mutation in exon 34 of NOTCH2. Although, renal abnormalities are considered an integral part of the HJCYS, published reports on ESRD are scarce. In those few published cases, where ESRD was recognized, renal failure developed either in late adolescence or adulthood. This is the first report of early ESRD occurring in a child. Patients with HJCYS may need chronic renal replacement therapy even in early childhood. The management of these children can be challenging given the multisystemic manifestations of HJCYS.

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Section: Discussionmentioning

confidence: 83%

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confidence: 95%

End‐Stage Renal Disease in an Infant With Hajdu‐Cheney Syndrome

et al. 2016

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“…[1][2][3] É caracterizada por dismorfismo craniofacial (deformidade craniana com impressão basilar e mandí-bula retraída) e alterações esqueléticas: baixa estatura, osteólise das falanges distais, osteoporose generalizada, escoliose, fratura de ossos longos, vários ossos intra-suturais e reduzida tabulação dos ossos longos. Outras características comuns são orelhas de implantação baixa, cabelo grosso e dentinogênese imperfeita.…”

Section: Discussionunclassified

“…Características menos comuns incluem a hipoacusia, sindactilia, insuficiência renal, cistos renais corticais, refluxo vésico-ureteral, alterações visuais e paralisia das cordas vocais. [3][4][5][6][7][8][9] Concluiu-se que o síndrome de Hadju-Cheney era diferente de outras formas de síndromes com acroosteólise pela presença de uma displasia esquelética generalizada e o fato de acroosteólise geralmente não estar presente no início da infância. 9 O paciente do presente relatório tinha estatura baixa, cabelos grossos, voz estridente e síndrome nefrótica, que evoluiu para insuficiência renal com necessidade de hemodiálise.…”

Section: Discussionunclassified

Hadju-Cheney syndrome: kidney disturbs in a case report

Dantas¹,

Pontes²,

Fernandes³

et al. 2013

Jornal Brasileiro De Nefrologia

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IntroduçãoHajdu-Cheney é uma síndrome rara caracterizada por dismorfismo craniofacial e alterações esqueléticas. A associação da síndrome com doença renal é rara. Este relato discute o caso de um garoto de 26 anos de idade, com doença Hadju-Cheney, que também apresentava hipertensão, cistos renais e síndrome nefrótica, que evoluiu para insuficiência renal. relato do CasoUm menino de 26 anos de idade, de uma pequena cidade no Ceará, Brasil, chegou a nós com edema nos membros inferiores Síndrome de Hadju-Cheney: alterações renais em um relato de caso Hadju-Cheney syndrome: kidney disturbs in a case report A síndrome de Hadju-Cheney é uma doença genética caracterizada por dismorfismos craniofaciais e alterações ósseas responsá-veis pelo fenótipo da doença. As alterações renais, como cistos renais corticais, refluxo vesico -ureteral e falência renal, são raramente relatadas, mas são incluídas como apresentações menos comuns. O diagnós-tico genético ainda não está disponível e a patogênese é relacionada a mutações no gene NOTCH. Os autores relatam um caso de um homem de 26 anos; porém, com características fenotípicas de um paciente pediátrico. Ele se apresentou com síndrome nefrótica, hipertensão arterial, cistos renais corticais e insuficiência renal aguda requerendo hemodiálise. A biopsia renal evidenciou glomeruloesclerose focal e segmentar e o tratamento para esse paciente foi de suporte com terapia hemodialítica. O diagnóstico da síndrome de Hadju-Cheney foi dado durante investigação do quadro renal. resumo Palavras-chave: hipertensão; insuficiência renal; nefropatias; proteinúria.Hajdu-Cheney disease is characterized by craniofacial dimorphisms and skeletal changes. Renal disturbs; such as renal cortical cysts, vesico-ureteral reflux and renal failure are rarely related but it is included as a less common feature. The diagnosis is not yet available and the pathogenesis it is related with mutations in the NOTCH gene. The authors report a case of a 26-years-old boy; but with phenotypic characteristics of a pediatric patient. He presented nephrotic syndrome, hypertension, renal cortical cysts, nephrotic range proteinuria and acute renal failure requiring hemodialysis. The renal tissue showed global and segmental glomerulosclerosis and the treatment to this patient it was supporting with hemodialysis. The diagnosis of Hadju-Cheney disease was given during investigation of renal function. abstraCt Keywords: hypertension; nephrology; proteinuria; renal insufficiency.(Figura 1). Ele nasceu de uma gravidez normal e parto normal de uma mãe saudável, e não havia parentesco entre os pais. Seus irmãos não têm o fenótipo Hadju-Cheney, mas ele tem dois primos com característi-cas físicas semelhantes. Ele sofreu retardo intra-uterino do crescimento e nasceu com pé torto congênito. Aos 9 anos de idade ele parou de andar e apresentou perceptiva flacidez muscular no membro inferior. Ele também começou a ter problemas com a visão, incluindo diminuição da acuidade visual e nistagmo, e com a sua voz, que parecia estar mais estriden...

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“…Rosenmann [21] 1977 Large kidneys; adult-type polycystic kidney disease Zahran [22] 1984 Enlarged kidneys; renal cystic dysplasia Van Den Houten [23] 1985 Cortical cysts Exner [24] 1988 Polycystic kidneys Majewski [25] 1993 Multiple cysts in both kidneys Kaplan [3] 1995 Case 1: adult polycystic kidney disease Case 2: cortical and medullary cysts Barakat [26] 1996 Small echogenic kidneys Fryns [2] 1997 Small and large cortical and medullary cysts Brennan [1] 2001 One small dysplastic kidney and 1 large kidney with parapelvic cysts Current case 2006 Polycystic kidneys with embryonal hyperlasia (EMA negative, WT1 positive, and CD57 positive). Metanephric adenomas are circumscribed unencapsulated tumors composed of small, uniform epithelial cells.…”

Section: Discussionmentioning

confidence: 99%

Hajdu-Cheney Syndrome: Report of a Case

2007

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Hajdu-Cheney syndrome is a rare disorder characterized by short stature, joint hypermobility, distinctive craniofacial and skull abnormalities, dental anomalies, and acroosteolysis of the distal phalanges. Cystic kidneys have been associated with some cases. We report a case of a 12-year-old girl with renal failure who underwent bilateral nephrectomies. Histopathological examination revealed polycystic kidneys with numerous nodules located throughout the kidney composed of basaloid epithelial cells.

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Kidney abnormalities in Hajdu-Cheney syndrome

Cited by 13 publications

References 27 publications

End‐Stage Renal Disease in an Infant With Hajdu‐Cheney Syndrome

End‐Stage Renal Disease in an Infant With Hajdu‐Cheney Syndrome

Hadju-Cheney syndrome: kidney disturbs in a case report

Hajdu-Cheney Syndrome: Report of a Case

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