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Nephrol Dial Transplant (2001) 16: 1942-1944
© 2001 European Renal Association-European Dialysis and Transplant Association

Teaching Point

A child with polycystic kidney disease: do we have to care about associated malformations?

(Section Editor: K. Kühn)

Ahlke Strassburg1,, Eckart Schirg2 and Jochen H. H. Ehrich1

1 Zentrum Kinderheilkunde und Humangenetik and 2 Zentrum Radiologie, Medizinische Hochschule Hannover, Hannover, Germany

Keywords: acro-osteolysis; Hajdu–Cheney syndrome; polycystic kidney disease; short stature

Introduction

A large number of associations between cystic kidneys and other clinical features has been described in the literature. Among these are syndromes that most clinicians will readily think of when kidney cysts are a major symptom. These include autosomal dominant and recessive polycystic kidney disease. In other syndromes kidney cysts can represent a less prominent clinical feature that might be overlooked initially, i.e. in tuberous sclerosis, Ehler–Danlos syndrome or Meckel–Gruber syndrome.

A syndrome with prominent skeletal features that in its original description was not linked to cystic kidneys is Hajdu–Cheney syndrome. It was first described by Hajdu and Kauntze in 1948 as a cranioskeletal dysplasia with peripheral dysostosis and spinal osteoporosis [1]. Harnasch first used the term acro-osteolysis to describe bilateral destructive bone lesions in the distal phalanges [2]. In 1965, Cheney reported acro-osteolysis in a family [3], most of whose symptoms (short stature, . . . [Full Text of this Article]

Clinical report

Discussion

Teaching points

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References


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