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• W2892011026 abstract "<b><i>Background:</i></b> Under physiological conditions, proximal tubular phosphate reabsorption via NaPi-IIa (and NaPi-IIc) ensures the maintenance of phosphate homeostasis. Impairment of NaPi-IIa, encoded by <i>SLC34A1</i>,<i></i> is associated with various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi’s syndrome with chronic kidney disease, and idiopathic infantile hypercalcemia and nephrocalcinosis. <b><i>Methods:</i></b> A patient was referred to our hospital due to hyponatremia, hyperkalemia, and hypophosphatemia, as well as persistent hypercalcemia after fluid therapy and sodium replacement. At admission to our hospital, potassium and sodium values were normal. After initiation of phosphorus therapy, hypokalemia and metabolic alkalosis were observed. Renal sonography showed bilateral medullary nephrocalcinosis. Analyses of the <i>SLC34A1</i> gene were performed due to hypercalcemia and hypophosphatemia. <b><i>Results:</i></b> Gene analyses identified a novel homozygous c.682T&#x3e;C (p.W228R) (p.Trp228Arg) mutation. There are no previous reports of patients with <i>SLC34A1</i> gene mutations presenting with hypokalemia and metabolic alkalosis. <b><i>Conclusion:</i></b> Herein, we present a case of infantile hypercalcemia 2 with a very different phenotype from that of previously described patients. Our findings provide further evidence for the wide range of phenotypic heterogeneity associated with NaPi-IIa impairment." @default.
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• W2892011026 date "2018-09-18" @default.
• W2892011026 modified "2023-10-03" @default.
• W2892011026 title "Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the <i>SLC34A1</i> Gene" @default.
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• W2892011026 doi "https://doi.org/10.1159/000492899" @default.
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