BACKGROUND: The efficacy of @entity208 in autosomal dominant @entity8 ( @entity8 ) has been disputed. AIM: To address this question, in the absence of controlled trials. DESIGN: Retrospective long-term follow-up study. METHODS: All kindreds were biochemically screened. Measurements included @entity414 clearance, @entity1011 clearance, serum @entity1011 , and glomerular filtration rate (GFR). We used five siblings who had died or progressed to transplantation, ten other deceased relatives, and two index cases (one untreated, one non-compliant) as controls to assess the effects of @entity208 . RESULTS: Of eight families with @entity8 , six had a strong history of @entity8 and early parental @entity204 (mean age 41 years, n=10). Of 27 @entity1 started immediately on @entity208 and treated uninterruptedly, 21 responded well, including three @entity1 born subsequently. Eight siblings (mean age 19 years) with a normal plasma @entity1011 at start (<120 micromol/l, mean GFR 80 ml/min/1.73 m(2)) retained stable renal function (mean 14.5 years, mean age 34 years, GFR 85 ml/min/1.73 m(2)). Of the 13 other responders, treated for up to 34 years, 10 with a @entity1011 <200 micromol/l at diagnosis (mean age 28 years, mean @entity1011 137 micromol/l at start) now have a mean @entity1011 of 210 micromol/l. In contrast, five @entity1 (mean age 26 years) with a @entity1011 >200 micromol/l (GFR <35 ml/min/1.73 m(2)) when @entity208 commenced, plus one untreated index case, all progressed rapidly (mean 6 years) to @entity454 . In two others (one non-compliant, one initially untreated), GFR fell by >50% in 7 years. Introduction of @entity208 in the latter has stabilized GFR. DISCUSSION: @entity208 reduced the morbidity and mortality from @entity177 seen in untreated siblings and previous generations of these families. Early diagnosis of @entity8 is important, so that treatment can begin before irreversible @entity8 has developed.

Early treatment with @entity208 in familial juvenile hyerpuricaemic @entity8 ( XXXX ) ameliorates the long-term progression of @entity8 .

@entity1 :: ('9606', 'Species') :: ['children', 'patients'] @entity8 :: ('MESH:D007674', 'Disease') :: ['familial juvenile hyperuricaemic nephropathy', 'FJHN', 'renal damage', 'renal disease'] @entity454 :: ('MESH:D007676', 'Disease') :: ['end-stage renal failure'] @entity177 :: ('MESH:D051437', 'Disease') :: ['renal failure'] @entity1011 :: ('MESH:D003404', 'Chemical') :: ['creatinine'] @entity208 :: ('MESH:D000493', 'Chemical') :: ['allopurinol', 'Allopurinol'] @entity204 :: ('MESH:D003643', 'Disease') :: ['death'] @entity414 :: ('MESH:D014527', 'Chemical') :: ['uric acid']
@entity8 :: (MESH:D007674,Disease) :: ['FJHN']
