| Autor: |
D, Müller, T, Ankermann, U, Stephani, M, Kirschstein, T, Szelestei, F C, Luft, T E, Willnow |
| Rok vydání: |
2001 |
| Předmět: |
|
| Zdroj: |
American journal of kidney diseases : the official journal of the National Kidney Foundation. 37(3) |
| ISSN: |
1523-6838 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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