title: Autosomal recessive polycystic kidney disease.
abstract: The clinical features of 55 cases of autosomal recessive polycystic kidney disease (ARPCKD) have been reviewed. Each had evidence of ARPCKD. The outcomes of 87% were known; 24 had died. Twenty-four of 31 were seen between 1980 and 1986; 7 could not be traced. Forty-five percent presented under 1 month; 38% between 1 month and 1 year; and 9 cases over 1 year. Hyponatraemia occurred in 15 out of 19 aged less than 3 months; hypertension occurred in 65%; splenomegaly in 47% of those surviving more than 3 months. Portocaval shunts were done in 5 aged 2-12 years. Thirteen died of renal failure, 6 under 1 year, and 7 between 1 year and 13 years. Life-table survival rates calculated from birth revealed that 86% were alive at 3 months, 79% at 1 year, 51% at 10 years, and 46% at 15 years. Calculations based on patients who survived to 1 year of age showed that 82% were alive at 10 years and 79% at 15 years. These results reveal an improved prognosis for a condition once assumed to be fatal.
authors.affiliation: Hospital for Sick Children, London, UK.
authors.forename: B S
authors.initials: BS
authors.lastname: Kaplan
authors.forename: J
authors.initials: J
authors.lastname: Fay
authors.forename: V
authors.initials: V
authors.lastname: Shah
authors.forename: M J
authors.initials: MJ
authors.lastname: Dillon
authors.forename: T M
authors.initials: TM
authors.lastname: Barratt
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006977:Hypertension, Renal / Q000209:etiology; D007010:Hyponatremia / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male; D007690:Polycystic Kidney Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D012083:Renin / Q000097:blood
chemical_list: D012083:Renin