Nephrology Dialysis Transplantation, Vol 13, Issue 8 1998-2003, Copyright © 1998 by Oxford University Press
V Duke, R Quinton, I Gordon, P Bouloux and A Woolf
Background. Anosmia and hypogonadotrophic hypogonadism
are the classic features of X-linked Kallmann's syndrome, a disorder caused
by mutations of KAL, a gene expressed during kidney
and brain development. About a third of patients have a solitary
functioning kidney, but little is known about their renal morbidity.
Methods. We studied seven patients aged 22-35 years
with X-linked Kallmann's syndrome and a solitary functioning kidney.
Results. Two patients developed significant
proteinuria associated with mild to moderate arterial hypertension in the
second to third decades of life. In one, proteinuria and renal impairment
preceded the appearance of hypertension, and the disorder progressed to
chronic renal failure. The remaining five patients had normal plasma
creatinine concentrations and no significant proteinuria although four had
borderline systolic and/or diastolic hypertension. In two sets of patients
from the same kindreds, there was a striking discordance for the occurrence
of renal morbidity. Conclusions. All patients with
X-linked Kallmann's syndrome should be screened for renal malformations,
and those with solitary kidneys require life-long follow-up to detect
hypertension, proteinuria and renal failure. Keywords:
hypertension; Kallmann's syndrome; proteinuria; renal failure; solitary
functioning kidney
ORIGINAL ARTICLES
Proteinuria, hypertension and chronic renal failure in X-linked Kallmann's syndrome, a defined genetic cause of solitary functioning kidney
Nephrology Unit, Institute of Child Health, University College London Medical School, London EC1E 1EH, UK; Division of Endocrinology, Academic Department of Medicine, Royal Free Hospital School of Medicine, University College London Medical School, London NW3 2QG, UK; Department of Radiology, Great Ormond Street Hospital NHS Trust, London WC1N 1JH, UK; Correspondence to: AS Woolf, Nephrology Unit, Institute of Child Health, 30 Guilford Street, London WC1E 1EH, UK
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