期刊
NEW ENGLAND JOURNAL OF MEDICINE
卷 362, 期 12, 页码 1102-1109出版社
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa0905647
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资金
- Israel Science Foundation [1735/08]
- Rappaport Family Institute for Research in the Medical Sciences
- Veronique Elek Fund of the Canadian Technion Society
- Rosalinde and Arthur Gilbert Foundation of the American Technion Society
- Canadian Institutes of Health Research [MOP-10580]
- Eshaghian Estate Fund of the American Technion Society
We describe two siblings from a consanguineous family with autosomal recessive Fanconi's syndrome and hypophosphatemic rickets. Genetic analysis revealed a homozygous in-frame duplication of 21 bp in SLC34A1, which encodes the renal sodium-inorganic phosphate cotransporter NaPi-IIa, as the causative mutation. Functional studies in Xenopus laevis oocytes and in opossum kidney cells indicated complete loss of function of the mutant NaPi-IIa, resulting from failure of the transporter to reach the plasma membrane. These findings show that disruption of the human NaPi-IIa profoundly impairs overall renal phosphate reabsorption and proximal-tubule function and provide evidence of the critical role of NaPi-IIa in human renal phosphate handling.
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