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 hyperkalemia...

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Bibliographic Details
Published in:Saudi journal of kidney diseases and transplantation 2012-07, Vol.23 (4), p.804-809
Main Authors: Malaki, Majid, Ghaffari, Shams, Mandana, Rafeei
Format: Article
Language:English
Subjects:
Acidosis
Acidosis, Renal Tubular - complications
Arthrogryposis
Arthrogryposis - complications
Arthrogryposis - diagnostic imaging
Calcification
Care and treatment
Case studies
Cholestasis
Cholestasis - complications
Cholestasis - diagnostic imaging
Complications and side effects
Consanguinity
Diabetes insipidus
Diabetes Insipidus, Nephrogenic - complications
Diagnosis
Fanconi Syndrome - complications
Female
Humans
Infant, Newborn
Jaundice, Obstructive
Kidneys
Nephrocalcinosis - complications
Radionuclide Imaging
Renal Insufficiency - complications
Renal Insufficiency - diagnostic imaging
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Summary: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.
ISSN:1319-2442
2320-3838
DOI:10.4103/1319-2442.98165