Improved prognosis for congenital nephrotic syndrome of the Finnish type in Irish families

Congenital nephrotic syndrome of the Finnish type is a rare autosomal reces sive disease with a high infant mortality without aggressive treatment. The biochemical basis of the disease is not understood fully but the disease l ocus has been mapped recently to chromosome 19q12-q13.1 in Finnish families . This paper describes the clinical features and outcome of 20 patients in Ireland with congenital nephrotic syndrome of the Finnish type who have pre sented since 1980. Before 1987, all infants died by the age of 3 years. Aft er the introduction of daily intravenous albumin infusion, nutritional supp ort, elective bilateral nephrectomy, and renal transplantation, mortality i n the past decade has fallen to 30%, with no deaths in the past five years. Genetic linkage analysis was performed in six families in whom DNA was ava ilable and the locus responsible was mapped to the same region on chromosom e 19 as in Finnish families, suggesting that families share the same diseas e locus.