Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

Stover, EH; Borthwick, KJ; Bavalia, C; Eady, N; Fritz, DM; Rungroj, N; Giersch, ABS; Morton, CC; Axon, PR; Akil, I; Al-Sabban, EA; Baguley, DM; Bianca, S; Bakkaloglu, A; Bircan, Z; Chauveau, D; Clermont, MJ; Guala, A; Hulton, SA; Kroes, H; Volti, GL; Mir, S; Mocan, H; NAYIR, Ahmet; Ozen, S; Soriano, JR; Sanjad, SA; Tasic, V; Taylor, CM; Topaloglu, R; Smith, AN; Karet, FE

doi:10.1136/jmg.39.11.796

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

Atıf İçin Kopyala

Stover E., Borthwick K., Bavalia C., Eady N., Fritz D., Rungroj N., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.39, sa.11, ss.796-803, 2002 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 39 Sayı: 11
Basım Tarihi: 2002
Doi Numarası: 10.1136/jmg.39.11.796
Dergi Adı: JOURNAL OF MEDICAL GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.796-803
İstanbul Üniversitesi Adresli: Hayır

Özet

Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokolaemia, decreased urinary calcium solubility, and impaired bone physiology and growth. Two types of rdRTA have been differentiated by the presence or absence of sensorineural hearing loss, but appear otherwise clinically similar. Recently, we identified mutations in genes encoding two different subunits of the renal alpha-intercalated cell's apical H+-ATPase that cause rdRTA. Defects in the B I subunit gene ATP6V1B1, and the a4 subunit gene ATP6V0A4, cause rdRTA with deafness and with preserved hearing, respectively.