NEP/TUE/01 A FAMILIAL STUDY OF CHILDHOOD RENAL ARTERY STENOSIS

SD Marks, A Gullett, E Brennan, K Tullus, AS Woolf. Great Ormond Street Hospital for Children NHS Trust and UCL Institute of Child Health, London, UK

Background: Childhood renal artery stenosis (RAS) leading to renovascular hypertension (RVH) is usually associated with fibromuscular dysplasia (FMD). RAS/FMD is most likely a primary disorder of arterial maturation and two previous studies reported that it can be inherited as a dominant, non-syndromic trait.

Aims: To determine the incidence of hypertension in first-degree relatives of a cohort of non-syndromic index cases with RVH, as a first step to answering whether RAS/FMD commonly runs in families.

Methods: Recruitment of individuals diagnosed with childhood RVH and their first-degree relatives. Exclusion criteria of index cases with defined syndromes (neurofibromatosis, Williams and Alagille syndrome). Family histories were obtained and visits arranged for blood pressure (BP) measurement and, when indicated, 24-h ambulatory BP monitoring.

Results: 10 unrelated index cases (60% male) aged 7–32 years (median 14) were recruited, with 27 first-degree relatives, comprising 16 (63% mothers) parents aged 28–58 years (median 44) and 11 (64% sisters) siblings aged 5–30 years (median 19), including one consanguineous family. Hypertension was evident in 25% of parents from different families (three were on antihypertensive medications), with one mother discovered to be hypertensive by BP measurement and ambulatory BP monitoring. All six adult siblings were normotensive. Of the five siblings aged under 18 years, one female teenager was pre-hypertensive (90–95th centile BP for age, sex and height). The remaining siblings under 18 years were normotensive (two with BP <50th and two with BP 50–90th centiles).

Conclusion: Given that the incidence of hypertension in the general adult population is approximately 25%, the incidence of hypertension in the parents of these index cases was not increased. Although none of the hypertensive parents have had RAS formally excluded …