ARC syndrome with complex renal problems : nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus

Abstract EN

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 hyperkalemia renal tubular acidosis, near-nephritic range proteinuria, hypercalciuria and severe hypovitaminosis D.