Hyperlipidemia, insulin-dependent diabetes mellitus, and rapidly progressive diabetic retinopathy and nephropathy in Prader-Willi syndrome with del(15) (q11.2q13)

Reda W Bassali, W. H. Hoffman, H. Chen, C. M. Tuck-Muller

Research output: Contribution to journalArticle

17 Scopus citations

Abstract

We report on a white man with Prader-Willi syndrome (PWS) and del(15)(q11.2q13), confirmed by fluorescence in situ hybridization (FISH), who had hyperlipidemia, insulin-dependent diabetes, and the early onset and rapid progression of diabetic retinopathy and nephropathy within 4 years after diagnosis of diabetes. The spectrum of glucose intolerance in patients with PWS is discussed, as well as those references which suggest that the prevalence of hyperlipoproteinemia in this condition may be greater than previously recognized. We suggest the need for clarification of both the prevalence and types of hyperlipoproteinemia, as well as the pathophysiology of glucose intolerance and correlation with molecular cytogenetic findings. We also encourage careful monitoring for diabetic complications to further clarify the prevalence and possible accelerated course of microvascular lesions.

Original languageEnglish (US)
Pages (from-to)267-270
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume71
Issue number3
DOIs
Publication statusPublished - Aug 19 1997

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Keywords

  • Del (15)(q11.2q13)
  • Diabetes mellitus
  • Diabetic nephropathy
  • Diabetic retinopathy
  • Hyperlipidemia
  • Prader-Willi syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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