AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE: CASE REPORT AND REVIEW OF LITERATURE

Volume: 46 Number: 1 March 1, 2007
  • Gülden Diniz
  • Ragıp Ortaç
  • Safiye Aktaş
  • Gürcan Erbay
  • Tülay Tos
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AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE: CASE REPORT AND REVIEW OF LITERATURE

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of inherited childhood nephropathy characterized by fusiform dilatation of collecting duct and congenital hepatic fibrosis. It has an incidence of 1: 7000- 20000. Up to 30% of cases die as neonates and progression to end stage renal disease occurs within 15 years in others. Only a few cases maintain renal function into adulthood where complications of liver disease predominate. The disease presentation is highly variable, but genetic linkage studies indicate the polycystic kidney and hepatic disease 1 (PKHD1) gene localized to chromosome 6p21. We herein present a stillborn female at 22 weeks of gestation to non-consanguineous parents. The presence of bilateral huge polycystic kidneys diagnosed with ultrasound examination and termination of pregnancy for this lethal condition was performed. In this case report, etiopathogenesis and recent genetic investigation findings of ARPKD were discussed.

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Primary Language

Turkish

Subjects

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Journal Section

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Authors

Gülden Diniz

Ragıp Ortaç

Safiye Aktaş

Gürcan Erbay

Tülay Tos

Publication Date

March 1, 2007

Submission Date

March 1, 2007

Acceptance Date

-

Published in Issue

Year 1970 Volume: 46 Number: 1

IZ

https://izlik.org/JA99SM29EB

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1.Gülden Diniz, Ragıp Ortaç, Safiye Aktaş, Gürcan Erbay, Tülay Tos. OTOZOMAL RESESİF POLİKİSTİK BÖBREK HASTALIĞI: OLGU SUNUMU VE LİTERATÜR TARAMASI. EJM [Internet]. 2007 Mar. 1;46(1):49-52. Available from: https://izlik.org/JA99SM29EB

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