title: Medullary cystic kidney disease type 1 in a large Native-American kindred.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  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 abnormalities are nonspecific. In patients presenting with renal insufficiency from apparent interstitial disease, a thorough family history and genetic linkage studies are required to establish a diagnosis of MCKD. We suspect MCKD is underdiagnosed and the true incidence of MCKD1 in the general population may be underestimated. No further living-related transplantation should be performed until genetic testing can exclude potentially affected donors.
authors.affiliation: Division of Nephrology and Hypertension, University of North Carolina, Chapel Hill, NC, USA.
authors.forename: Raymond L
authors.initials: RL
authors.lastname: Kiser
authors.forename: Matthias T F
authors.initials: MT
authors.lastname: Wolf
authors.forename: Jeffrey L
authors.initials: JL
authors.lastname: Martin
authors.forename: Isabella
authors.initials: I
authors.lastname: Zalewski
authors.forename: Massimo
authors.initials: M
authors.lastname: Attanasio
authors.forename: Friedhelm
authors.initials: F
authors.lastname: Hildebrandt
authors.forename: Philip
authors.initials: P
authors.lastname: Klemmer
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007198:Indians, North American / Q000235:genetics; D007679:Kidney Medulla; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000208:ethnology* / Q000235:genetics* / Q000503:physiopathology