title: Spectrum of hereditary renal disease in a kidney transplant population.
abstract: Re-evaluation of the underlying renal disease in 1000 consecutive kidney transplant patients revealed 129 cases of adult autosomal dominant polycystic kidney disease and 60 clear and seven suspected cases with other hereditary renal disorders. Twenty-four of 60 patients had cystic/dysplastic disease--10 of these classified as nephronophthisis, five as polycystic disease, and nine with the renal affection as part of a congenital malformation syndrome. Thirteen patients had Alport's syndrome, nine were diagnosed with tubulointerstitial nephritis, and six had an adult form of focal segmental glomerular sclerosis (FSGS). Two had changes classified as nephrosclerosis, but with an autosomal dominant mode of inheritance. Finnish type congenital nephrotic syndrome was present in two children and familial amyloidosis in two adults. Two patients had an unclassified disease. During follow-up, five patients with cystic/dysplastic disorders manifested liver disease. None of the patients with FSGS had recurrence and none of the Alport patients had anti-GBM disease. There were no other complications related to the renal condition. In conclusion, hereditary disorders are underestimated in regular registries of patients with end-stage renal failure. An adult form of FSGS and what seems to be a hereditary form of nephrosclerosis are among those that merit further study.
authors.affiliation: Transplant Unit, Sahlgrenska University Hospital, Göteborg, Sweden.
authors.forename: G
authors.initials: G
authors.lastname: Nyberg
authors.forename: S
authors.initials: S
authors.lastname: Friman
authors.forename: C
authors.initials: C
authors.lastname: Svalander
authors.forename: G
authors.initials: G
authors.lastname: Nordén
mesh_terms: D000293:Adolescent; D000328:Adult; D002423:Cause of Death; D002648:Child; D002675:Child, Preschool; D005260:Female; D006085:Graft Survival; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000235:genetics* / Q000601:surgery; D016030:Kidney Transplantation; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011183:Postoperative Complications; D012042:Registries; D012189:Retrospective Studies; D012307:Risk Factors