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

---

DEMİR 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, Scopus)

• 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
• Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
• Dokuz Eylül 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.