| Autor: |
Zakzouk SM; Department of ORL, King Saud University, Riyadh, Saudi Arabia., Sobki SH, Mansour F, al Anazy FH |
| Jazyk: |
angličtina |
| Zdroj: |
The Journal of laryngology and otology [J Laryngol Otol] 1995 Oct; Vol. 109 (10), pp. 930-4. |
| DOI: |
10.1017/s0022215100131706 |
| Abstrakt: |
A follow-up of seven patients with the autosomal recessive inherited syndrome of distal renal tubular acidosis (RTA) and sensorineural hearing loss is described. Five patients were diagnosed as having primary distal renal tubular acidosis and rickets, four were found to have severe sensorineural hearing loss of over 80 dB: two of which are brothers. Two patients were diagnosed as having secondary distal renal acidosis due to a genetic disorder called osteopetrosis; they are brothers and their audiograms showed a mild conductive hearing loss of an average 35 dB bilaterally. All patients had growth retardation with improvement due to alkaline therapy but their hearing loss was not affected by the medication. The pedigrees of two families with half sibs showed the familial incidence for consanguineous marriage. Consanguinity was found to be positive in five out of the seven patients. The tribal tradition in Saudi Arabia fosters consanguineous marriages for cultural and social reasons and pre-arranged marriages are still seen. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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