Nephrol Dial Transplant (2001) 16: 1170-1175
© 2001 European Renal Association-European Dialysis and Transplant Association
Multicystic dysplastic kidney and Kallmann's syndrome: a new association?
1 Department of Child Health, The Royal Victoria Infirmary, Newcastle-upon-Tyne, 2 Centre for Neuroendocrinology, Department of Medicine, Royal Free and University College Medical School, London, and 3 Nephro-Urology Unit, Institute of Child Health, University College London, London, UK
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, 
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.
Keywords: anosmia; gonadotrophin-releasing hormone; hypogonadism; Kallmann's syndrome; multicystic dysplastic kidney; renal agenesis
Correspondence and offprint requests to: Dr T. D. Cheetham, Department of Child Health, The Royal Victoria Infirmary, Newcastle-upon-Tyne NE1 4LP, UK.
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