ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus
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Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
Published on: June 20, 2018
Majid Malaki1, Rafeei Mandana, Shamsi Ghaffari
1Department of Pediatric Nephrology, Tabriz University Medical Sciences, Tabriz, Iran. majidmalaki@gmail.com
Abstract:
We present a female neonate with arthrogryposis, renal tubular abnormalities and cholestasis syndrome and complex renal structural and functional abnormalities that include medullary nephrocalcinosis, hydronephrosis, nephrogenic diabetes insipidus, Fanconi syndrome, proximal and distal hyperkalemic renal tubular acidosis, near-nephrotic range proteinuria, hypercalciuria and severe hypovitaminosis D.
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