Journal Article

Glomerulocystic kidney disease in a family

Rosanna Gusmano, Gianluca Caridi, Monica Marini, Francesco Perfumo, Gian Marco Ghiggeri, Giorgio Piaggio, Isabella Ceccherini and Marco Seri

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 17, issue 5, pages 813-818
Published in print May 2002 | ISSN: 0931-0509
Published online May 2002 | e-ISSN: 1460-2385 | DOI:
Glomerulocystic kidney disease in a family

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Background. Glomerulocystic kidney disease (GCKD) is a rare renal disorder, the identity of which has long been discussed. GCKD can occur in a familial form with autosomal dominant transmission. The presence of GCKD in families affected with autosomal dominant polycystic kidney disease (ADPKD) has lent support to the hypothesis that GCKD may be an early manifestation of ADPKD. In families with hypoplastic forms of GCKD, the HNF‐1β gene has recently been identified.

Methods. Three members of a family were evaluated: a girl (case 1) and her brother (case 2), who were aged 11 and 12 years, respectively, at the beginning of the study, and, subsequently, the girl's son, when he was 4 years old (case 3). They all had mild renal insufficiency. Clinical, morphological and genetic evaluations were performed on 11 members of the family.

Results.Case 1. A mild reduction in renal length with modest dysmorphology of renal calyces and hyperechogenic parenchyma were present when the patient was 11 years old. At the age of 29 some small renal cysts were identified, which remained unchanged over the next 8 years. Renal dysfunction remained stable. Case 2. A slight reduction in size of a hyperechogenic kidney was found. Cysts were seen at the age of 38. Renal dysfunction remained unchanged. Case 3. Kidneys were of normal size. Small cysts were found at the age of 9 years. In cases 1 and 2, histopathology was highly consistent with GCKD. In none of the cases associated pathological conditions could be identified. Haplotype reconstruction allowed the exclusion of PKD1 and PKD2 genes. No mutation of the HNF‐1β gene was found.

Conclusions. The morphological data from the three cases are suggestive of GCKD. The involvement of PKD1, PKD2 and HNF‐1β gene mutations was excluded.

Keywords: familial autosomal dominant; genetics; glomerulocystic kidney disease

Journal Article.  3405 words.  Illustrated.

Subjects: Nephrology

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