A novel claudin-16 mutation, severe bone disease, and nephrocalcinosis

Medullary nephrocalcinosis with normal renal function can result from dysregulated calcium metabolism or tubular or anatomical disease, and is most commonly caused by primary hyperparathyroidism, distal renal tubular acidosis (dRTA), or medullary sponge kidney.1 Nephrocalcinosis with a severe metabo...

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Bibliographic Details
Published in:The Lancet (British edition) 2014-01, Vol.383 (9911), p.98-98
Main Authors: Nadarajah, Luxme, MRCP, Khosravi, Maryam, MRCP, Dumitriu, Simona, MD, Klootwijk, Enriko, PhD, Kleta, Robert, Prof, Yaqoob, Muhammad M, Prof, Walsh, Stephen B, Dr
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Bone Demineralization, Pathologic - genetics
Claudins - genetics
Disease
Families & family life
Family medical history
Fractures
General aspects
Humans
Hypercalciuria - genetics
Hypocalcemia - genetics
Hypoparathyroidism - congenital
Hypoparathyroidism - genetics
Internal Medicine
Kidney Failure, Chronic - genetics
Male
Medical sciences
Mutation
Nephrocalcinosis - genetics
Nephrology. Urinary tract diseases
Renal function
Renal Tubular Transport, Inborn Errors - genetics
Urinary lithiasis
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Summary:Medullary nephrocalcinosis with normal renal function can result from dysregulated calcium metabolism or tubular or anatomical disease, and is most commonly caused by primary hyperparathyroidism, distal renal tubular acidosis (dRTA), or medullary sponge kidney.1 Nephrocalcinosis with a severe metabolic acidosis and an alkaline urine (pH>5·3) is diagnostic for dRTA.2 However, end stage renal failure is highly unusual in primary dRTA. Using Sanger gene sequencing, we identified a novel homozygous splice site mutation in intron 1 of the claudin-16 gene (c.324?+?3_324?+?4insT), which was predicted to disrupt gene splicing with consequent aberrant protein production.
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(13)62673-2