PMID: 15384011Sep 24, 2004Paper

Medullary cystic kidney disease type 1 in a large Native-American kindred

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
Raymond L KiserPhilip Klemmer

Abstract

Autosomal dominant medullary cystic kidney disease type 1 (MCKD1; Mendelian Inheritance in Man 174000) is a hereditary tubulointerstitial renal disease. For MCKD1, a locus on chromosome 1q21 is published. Although there are characteristic biopsy and imaging findings for MCKD, clinical diagnosis of this disorder is still very difficult because unique phenotypic features are not always present in individual cases. In a large Native-American kindred with apparent autosomal dominant nephropathy, clinical findings in more than 50 individuals were collected and evaluated. Haplotype analysis for 34 individuals was performed. We report the difficulties establishing the diagnosis of MCKD in a large Native-American kindred solely by means of clinical criteria. This kindred shows a wider range of age of disease onset than previously reported. Gout and hypertension were common, but no patient reported symptoms of salt wasting. By means of haplotype analysis linkage was shown to the MCKD1 locus (logarithm of the odds score, 3.34). Establishing a diagnosis of MCKD solely on clinical findings is difficult because signs and symptoms may be subtle, renal cysts may be absent in more than 50% of affected individuals, and renal histological abnorm...Continue Reading

Citations

Sep 13, 2006·Néphrologie & thérapeutique·Patrick Niaudet, Rémi Salomon
May 10, 2016·The Journal of Molecular Diagnostics : JMD·Brendan BlumenstielNiall J Lennon
Jun 2, 2006·Human Genetics·Matthias T F WolfFriedhelm Hildebrandt

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