Nephrology Dialysis Transplantation, Vol 12, Issue 7 1354-1361, Copyright © 1997 by Oxford University Press
SA Feather, PJ Winyard, S Dodd and AS Woolf
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.
ORIGINAL ARTICLES
Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred
Molecular Genetics Unit, Institute of Child Health, Royal London Hospital, London.
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