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Nephrol Dial Transplant. 1997 Jul;12(7):1354-61.

Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred.

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  • 1Molecular Genetics Unit, Institute of Child Health, Royal London Hospital, London.

Abstract

BACKGROUND:

Oral-facial-digital syndrome type 1 (OFD1) is a rare disorder comprising malformations of the face, oral cavity, hands, and feet. Polycystic kidney disease (PKD) is a more recently recognized feature of the syndrome.

SUBJECTS AND METHODS:

We now report on the clinical, radiological and histopathological features of an OFD1 and PKD kindred with five affected members in three subsequent generations.

RESULTS:

All patients were female and had accompanying PKD as assessed by ultrasound scans. The plasma creatinine was normal in three, but PKD caused end-stage renal failure in two of these individuals in the second and fifth decades. A histochemical analysis of renal tissue from one affected member of this kindred demonstrated a predominantly glomerulocystic kidney disease with a minor population of cysts derived from distal tubules as assessed by staining with Arachis hypogaea lectin. Cyst epithelia had a high level of mitosis as assessed by staining with antisera to proliferating cell nuclear antigen, and distal cysts overexpressed PAX2 protein, a potentially oncogenic transcription factor. We detected multiple pancreatic cysts in one member affected by OFD1 although there were no symptoms of pancreatic disease; this constitutes a novel radiological feature of the syndrome.

CONCLUSIONS:

This kindred illustrates the inheritance pattern of OFD1 and its accompanying PKD. Although the renal disease superficially resembles ADPKD with macroscopic cysts and a dominant inheritance pattern, histology shows a predominance of glomerular cysts and the syndrome is X-linked, with affected males dying before birth. The recognition of the accompanying dysmorphic features is the key to a diagnosis of OFD1 in a female child or adult who presents with PKD.

PMID:
9249769
[PubMed - indexed for MEDLINE]
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