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Renal Tubular Acidosis and Sensorineural DeafnessAn Autosomal Recessive Syndrome
Dr Cor W.R.J. Cremers;
Prof Dr Leo A. H. Monnens;
Prof Dr Ed H.M.A. Marres
Arch Otolaryngol. 1980;106(5):287-289.
Abstract
• 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.
(Arch Otolaryngol 106:287-289, 1980)
Author Affiliations
From the Departments of Otorhinolaryngology (Drs Cremers and Marres) and Pediatrics (Dr Monnens), St Radboud Hospital, University of Nijmegen, Nijmegen, the Netherlands.
Footnotes
Accepted for publication Feb 1, 1979.
Reprint requests to Department of Otorhinolaryngology, St Radboud Hospital, University of Nijmegen, Philips van Leydenlaan 15, Nijmegen, the Netherlands (Dr Cremers).
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