Renal tubular acidosis and sensorineural deafness: an autosomal recessive syndrome.
This is the first known reported case of autosomal recessive syndrome of renal tubular acidosis and sensorineural deafness in the otorhinolaryngological literature. Ten cases in six families have been reported in the pediatric literature. Most cases manifested at birth or soon after with vomiting, dehydration, polydipsia, polyuria, hyposthenuria, and failure to thrive. Renal tubular acidosis is a clinical syndrome of disordered acidification out of proportion to the impairment of glomerular filtration, and is associated with alkaline urine. Sensorineural deafness is variable and, in most cases, present in early childhood.
D000141:Acidosis, Renal Tubular / Q000150:complications / Q000235:genetics* / Q000652:urine; D002245:Carbon Dioxide / Q000652:urine; D002675:Child, Preschool; D003638:Deafness / Q000150:complications / Q000235:genetics* / Q000652:urine; D005260:Female; D006801:Humans; D013577:Syndrome
D002245:Carbon Dioxide