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Multicystic dysplastic kidney and Kallmann's syndrome: a new association?

Lookup NU author(s): Alison Robertson, Dr Mary Gibson, Dr Nadeem Moghal, Dr Timothy Cheetham

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Abstract

Background. Kallmann's syndrome is characterized by anosmia and hypogonadotrophic hypogonadism. Radiographic studies of teenagers and older subjects with the X-linked form of the syndrome have shown that up to 40% have an absent kidney unilaterally. Although this has been attributed to renal 'agenesis', a condition in which the kidney fails to form, little is known about the appearance of the developing urinary tract either pre- or post-natally in individuals with Kallmann's syndrome. Methods. We describe two brothers who had features of Kallmann's syndrome. most probably of the X-linked variety, who both had a major urinary-tract malformation detected before birth. Results. The brothers were found to have unilateral multicystic dysplastic kidneys on routine antenatal ultrasound scanning and both underwent surgical nephrectomy of these organs post-natally. Immunohistochemical studies on the younger sibling revealed hyperproliferative dysplastic kidney tubules which overexpressed PAX2, a potentially oncogenic transcription factor, and BCL2, a cell-survival factor, surrounded by metaplastic, alpha smooth-muscle actin-positive stroma: similar patterns have been observed in patients with non-syndromic multicystic dysplastic kidneys. Conclusions, Our results describe a new type of urinary-tract malformation associated with Kallmann's syndrome. However, since multicystic kidneys tend to involute, only when more Kallmann's syndrome patients are screened in utero or in early childhood using structural renal scans, will it be possible to establish whether multicystic kidney disease is a bona-fide part of the syndrome.


Publication metadata

Author(s): Deeb A, Robertson A, MacColl G, Bouloux PMG, Gibson M, Winyard PJD, Woolf AS, Moghal NE, Cheetham TD

Publication type: Article

Publication status: Published

Journal: Nephrology, Dialysis, Transplantation

Year: 2001

Volume: 16

Issue: 6

Pages: 1170-1175

ISSN (print): 0931-0509

ISSN (electronic): 1460-2385

Publisher: Oxford University Press

URL: http://dx.doi.org/10.1093/ndt/16.6.1170

DOI: 10.1093/ndt/16.6.1170


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