NHERF1 Mutations and Responsiveness of Renal Parathyroid Hormone  

Oleh:

Karim, Zoubida ; Gerard, Benedicte ; Bakouh, Naziha ; Alili, Rohia ; Leroy, Christine

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 359 no. 11 (Sep. 2008), page 1128.

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2008.05 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

Impaired renal phosphate reabsorption, as measured by dividing the tubular maximal reabsorption of phosphate by the glomerular filtration rate (TmP/GFR), increases the risks of nephrolithiasis and bone demineralization. Data from animal models suggest that sodium–hydrogen exchanger regulatory factor 1 (NHERF1) controls renal phosphate transport. We sequenced the NHERF1 gene in 158 patients, 94 of whom had either nephrolithiasis or bone demineralization. We identified three distinct mutations in seven patients with a low TmP/GFR value. No patients with normal TmP/GFR values had mutations. The mutants expressed in cultured renal cells increased the generation of cyclic AMP (cAMP) by parathyroid hormone (PTH) and inhibited phosphate transport. These NHERF1 mutations suggest a previously unrecognized cause of renal phosphate loss in humans.

Opini Anda

Klik untuk menuliskan opini Anda tentang koleksi ini!

Kembali