Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness

Alternative Names

  • Renal Tubular Acidosis with Progressive Nerve Deafness
  • RTA with Progressive Nerve Deafness
  • Renal Tubular Acidosis, Autosomal Recessive, with Progressive Nerve Deafness
  • dRTA and Sensorineural Deafness
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WHO-ICD-10 version:2010

Diseases of the genitourinary system

Other disorders of kidney and ureter

OMIM Number

267300

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2cen-q13

Description

The syndrome of distal renal tubular acidosis and nerve deafness is a distinct nosological entity that is inherited as an autosomal recessive trait. Features associated with distal renal tubular acidosis include impaired urine acidification leading to severe hyperchloremic hypokalemic metabolic acidosis, hypercalciuria, hypocitraturia, potassium depletion, nephrocalcinosis (prominent renal tract calcification) and nephrolithiasis. Nephrocalcinosis is thought to result from the hypercalciuria and hypocitraturia.

Molecular Genetics

It has been recently demonstrated that mutations in the gene encoding B1 subunit of H+-ATPase (ATP6B1) cause DRTA with sensorineural deafness. These findings indicate a role for H+-ATPase containing the B1 subunit in maintenance of acid-base homeostasis and in endolymphatic acid secretion.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
267300.2.1IraqMaleNoYes Postnatal growth retardation; Rickets; H... NM_012188.4:c.638G>CHomozygousAutosomal, RecessiveEnerbäck et al. 2018
267300.1.1United Arab EmiratesMaleYesYes Postnatal growth retardation; Rickets; H... NM_012188.4:c.436C>THomozygousAutosomal, RecessiveEnerbäck et al. 2018 Proband
267300.1.2United Arab EmiratesFemaleYesYes Postnatal growth retardation; Rickets; H... NM_012188.4:c.436C>THomozygousAutosomal, RecessiveEnerbäck et al. 2018 Sister of 267300.1.1

Other Reports

Morocco

Stover et al. (2002) identified a 41-year-old female patient with recessive distal renal tubular acidosis with progressive nerve deafness. The patient originated from a consanguineous family from Morocco.

Saudi Arabia

Zakzouk et al. (1995) reported a follow-up of seven patients with autosomal recessive distal renal tubular acidosis and sensorineural hearing loss. Five patients were diagnosed as having primary distal renal tubular acidosis and rickets, four were found to have severe sensorineural hearing loss of over 80 dB: two of which are brothers. Two patients were diagnosed as having secondary distal renal acidosis due to a genetic disorder called osteopetrosis; they are brothers and their audiograms showed a mild conductive hearing loss of an average 35 dB bilaterally. All patients had growth retardation with improvement due to alkaline therapy but their hearing loss was not affected by the medication. The pedigrees of two families with half sibs showed the familial incidence for consanguineous marriage. Consanguinity was found to be positive in five out of the seven patients.

Al-Rasheed et al. (1998) observed, over a 10-year period, 28 Arab children with autosomal recessive osteopetrosis in two hospitals in Riyadh. Eighteen (64%) had osteopetrosis associated with metabolic acidosis probably due to a renal tubular defect; nine (32%) had a malignant infantile form of osteopetrosis and one had a mild form with delayed onset. Parental consanguinity was 56% and 40% among patients with and without acidosis respectively. Dental caries, cerebral calcification and optic atrophy were more frequent in patients with acidosis, while anemia, hepatosplenomegaly and deafness were more common in patients without acidosis.

Stover et al. (2002) identified four patients from Saudi Arabia with recessive distal renal tubular acidosis with progressive nerve deafness. The age of the patients ranged between 10-15 years and all were the results of consanguineous marriages.

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