Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease

Demir K., Yildiz M., Bahat H., Goldman M., Hassan N., Tzur S., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.102, sa.12, ss.4604-4614, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 102 Sayı: 12
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1210/jc.2017-01592
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.4604-4614
  • İstanbul Üniversitesi Adresli: Evet

Özet

Context: NaPi-IIa, encoded by SLC34A1, is a key phosphate transporter in the mammalian proximal tubule and plays a cardinal role in renal phosphate handling. NaPi-IIa impairment has been linked to various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi syndrome with chronic kidney disease, and, most recently, idiopathic infantile hypercalcemia and nephrocalcinosis.