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Holoprosencephaly and low molecular weight proteinuria: the human homologue of murine megalin deficiency

Item Type:Article
Title:Holoprosencephaly and low molecular weight proteinuria: the human homologue of murine megalin deficiency
Creators Name:Mueller, D. and Ankermann, T. and Stephani, U. and Kirschstein, M. and Szelestei, T. and Luft, F.C. and Willnow, T.E.
Abstract:We encountered a child with holoprosencephaly, pulmonary insufficiency, absent circulating vitamin D metabolites, mild albuminuria, and urinary excretion of vitamin D-binding protein. The child displayed a phenotype highly reminiscent of that observed in mice genetically deficient for megalin, a member of the low-density lipoprotein receptor superfamily. Only the Guthrie card was available from the child; the DNA sufficed for a limited haplotype analysis. We were not able to implicate the megalin gene locus directly; however, the possibility of a functional megalin defect in this child remains. To the best of our knowledge, this patient represents the first report that pathologic abnormalities consistent with megalin deficiency are present in humans.
Keywords:Fanconis syndrome, Genetics, Holoprosencephaly, Megalin, Tubular proteinuria, Tubulopathy, Vitamin D, Animals
Source:American Journal of Kidney Diseases
ISSN:0272-6386
Publisher:Saunders
Volume:37
Number:3
Page Range:624-628
Date:1 January 2001
Official Publication:https://doi.org/10.1053/ajkd.2001.22092
PubMed:View item in PubMed

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