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

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

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.102, no.12, pp.4604-4614, 2017 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 102 Issue: 12
• Publication Date: 2017
• Doi Number: 10.1210/jc.2017-01592
• Journal Name: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.4604-4614
• Istanbul University Affiliated: No

Abstract

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.