title: Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups.
abstract: Nephronophthisis--medullary cystic kidney disease is a progressive chronic tubulointerstitial nephritis leading to terminal renal failure. About two thirds of the patients with familial juvenile nephronophthisis, an autosomal recessive disease, have a homozygous deletion at the gene locus on 2q13. Through a nationwide search, 59 patients were ascertained in Finland. The incidence was 1:61,800 live births when calculated over a 20-year period. Of the patients, 17 came from four families showing dominant inheritance and 37 patients from 28 apparently recessive families when classified by family history, clinical features or presence of a deletion on 2q13. Two were considered as new dominant mutations; three sporadic patients could not be classified. The most significant difference between the patients with deletions, patients without deletions but having recessive family history, and patients belonging to families with dominant inheritance was the age at first symptoms, at the start of dialysis and at transplantation. These facts will be of help in determining the mode of inheritance of a sporadic patient without a deletion.
authors: Department of Medical Genetics, University of Helsinki, Finland. Sirpa.Ala-Mello@helsinki.fi
authors: S
authors: S
authors: Ala-Mello
authors: O
authors: O
authors: Koskimies
authors: J
authors: J
authors: Rapola
authors: H
authors: H
authors: Kääriäinen
mesh_terms: D000328:Adult; D002648:Child; D018450:Disease Progression; D005260:Female; D005387:Finland / Q000453:epidemiology; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000453:epidemiology* / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D010375:Pedigree