Siblings with congenital renal tubular acidosis and nerve deafness

Autor:	A. Gentine, C. Stoll, J. Geisert
Rok vydání:	2008
Předmět:	Male medicine.medical_specialty Pediatrics Adolescent Hearing loss media_common.quotation_subject Genes Recessive Consanguinity Deafness Nuclear Family Renal tubular acidosis Tubulopathy Internal medicine otorhinolaryngologic diseases Genetics medicine Humans Girl Child Genetics (clinical) media_common Acidosis business.industry Acidosis Renal Tubular Syndrome medicine.disease Endocrinology Female France medicine.symptom Nephrocalcinosis business Kidney disease
Zdroj:	Clinical Genetics. 50:235-239
ISSN:	1399-0004 0009-9163
Popis:	Two siblings (a boy and a girl) had congenital renal tubular acidosis (RTA) with nephrocalcinosis. Hearing loss due to nerve deafness was diagnosed at 13 1/2 and 9 years of age, respectively. The parents, who are second cousins, are healthy. They have another boy who is unaffected. This is in accordance with an autosomal recessive gene. The association of RTA and deafness was first noted by Royer in 1967, and so far some 50 cases have been described. The literature is reviewed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e88a159ea1eb494c2028f2b9d331c2de https://doi.org/10.1111/j.1399-0004.1996.tb02634.x Zobrazit plný text záznamu Plný text