ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus.
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.
Department of Pediatric Nephrology, Tabriz University Medical Sciences, Tabriz, Iran. majidmalaki@gmail.com
Majid
M
Malaki
Rafeei
R
Mandana
Shamsi
S
Ghaffari
D000141:Acidosis, Renal Tubular / Q000150:complications*; D001176:Arthrogryposis / Q000150:complications* / Q000000981:diagnostic imaging; D002779:Cholestasis / Q000150:complications* / Q000000981:diagnostic imaging; D003241:Consanguinity; D018500:Diabetes Insipidus, Nephrogenic / Q000150:complications*; D005198:Fanconi Syndrome / Q000150:complications; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009397:Nephrocalcinosis / Q000150:complications*; D011877:Radionuclide Imaging; D051437:Renal Insufficiency / Q000150:complications* / Q000000981:diagnostic imaging