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Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children.
- Source :
-
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2007 Jun; Vol. 22 (6), pp. 825-8. Date of Electronic Publication: 2007 Jan 11. - Publication Year :
- 2007
-
Abstract
- Distal renal tubular acidosis (RTA) with nerve deafness is caused by mutations in the ATP6V1B1 gene causing defective function of the H+ -ATPase proton pump. We report five acidotic children (four males) from four unrelated families: blood pH 7.21-7.33, serum bicarbonate 10.8-14.7 mEq/l, minimum urinary pH 6.5-7.1 and fractional excretion of bicarbonate in the presence of normal bicarbonatemia 1.1-5.7%. Growth retardation and nephrocalcinosis, but not hypercalciuria, were common presenting manifestations. Hearing was normally preserved in one of the patients whose sister was severely deaf. One child was homozygous for a known mutation in exon 1: C>T (R31X). Three children were homozygous for a splicing mutation, intron 6 + 1G>A. The other patient was a compound heterozygote, having this mutation and a previously unreported mutation in exon 10: G>A (E330K). Our report shows that hearing loss is not always present in the syndrome of distal renal tubular acidosis with nerve deafness and the absence of hypercalciuria at diagnosis and describes a new mutation responsible for the disease in the ATP6V1B1 gene.
- Subjects :
- Acidosis, Renal Tubular pathology
Acidosis, Renal Tubular physiopathology
Child, Preschool
DNA Mutational Analysis
Female
Growth Disorders genetics
Growth Disorders pathology
Growth Disorders physiopathology
Hearing Loss, Sensorineural pathology
Hearing Loss, Sensorineural physiopathology
Humans
Infant
Male
Nephrocalcinosis genetics
Nephrocalcinosis pathology
Nephrocalcinosis physiopathology
Polymerase Chain Reaction
Syndrome
Acidosis, Renal Tubular genetics
Genetic Predisposition to Disease
Hearing Loss, Sensorineural genetics
Mutation
Vacuolar Proton-Translocating ATPases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0931-041X
- Volume :
- 22
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Pediatric nephrology (Berlin, Germany)
- Publication Type :
- Academic Journal
- Accession number :
- 17216496
- Full Text :
- https://doi.org/10.1007/s00467-006-0417-7