CLINICAL CASE OF A PATIENT WITH DISTAL RENAL TUBULAR ACIDOSIS WITH HEARING LOSS
Abstract
Distal renal tubular acidosis with deafness (OMIM 267300) is a rare disease characterized by severe metabolic acidosis due to impaired excretion of hydrogen ions in the distal nephron. Violation of physical and psychomotor development, deformation of limbs, electrolyte disturbances without proper and timely treatment can lead to disability at a very early age. The article describes a clinical case that refl ects the complexity and insidiousness of diagnosing distal renal tubular acidosis in a child of the fi rst year of life.
References
Каюков И.Г., Добронравов В.А., Кучер А.Г. и др. Почечные тубулярные ацидозы в практике «Взрослого» нефролога. Сообщение 1. Роль почек в регуляции кислотно-основного гомеостаза. Нефрология. 2013; 1.
Finer G., Landau D. Clinical Approach to Proximal Renal Tubular Acidosis in Children. Adv Chronic Kidney Dis. 2018; 25(4): 351–7. DOI: 10.1053/j.ackd.2018.05.006. PMID: 30139461.
Клинические рекомендации — 2016. Тубулопатии у детей. Утверждены Минздравом РФ. 2019.
Haque S.K., Ariceta G., Batlle D. Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. Nephrol Dial Transplant. 2012; 27(12): 4273–87. DOI: 10.1093/ndt/gfs493.
Igarashi T., Sekine T., Inatomi J., Seki G. Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis. J Am Soc Nephrol. 2002; 13: 2171–7.
Rodriguez Soriano J. Renal tubular acidosis: the clinical entity. J Am Soc Nephrol. 2002; 13:2160–70. DOI:10.1097/01.ASN.0000023430.92674.E5
Moorthi K., Batlle D. Renal Tubular Acidosis. In: Gennari J., Adrogue H.J., Galla J.H., Madias N.E., editors. Acid–Base Disorders and Their Treatment. Boca Raton: Taylor and Francis; 2005: 417–59.
