ABSTRACT
Autosomal recessive distal renal tubular acidosis (dRTA) is associated with mutation in the ATP6B1 gene encoding the B1 subunit of H + -ATPase, one of the key membrane transporters for net acid excretion of α-intercalated cells of medullary collecting ducts. Sensori-neural deafness frequently accompanies this type of dRTA. We herewith describe a patient who had distinct features of dRTA with bilateral sensori-neural hearing loss and ATP6B1 mutation. This is a rare entity.
Subject(s)
Acidosis, Renal Tubular/genetics , Hearing Loss, Sensorineural/genetics , Vacuolar Proton-Translocating ATPases/genetics , Adolescent , Humans , Male , MutationABSTRACT
Chloroform, a halogenated hydrocarbon, causes central nervous system (CNS) depression, cardiac arrhythmias, hepatotoxicity, and renal failure. We describe a successful outcome in a case of chloroform ingestion with renal and hepatotoxicity with N-acetylcysteine (NAC) administration and hemodialysis support.
