Alport's syndrome, an undiagnosed entity with different modes of inheritance and review of literature
PJMR-Pakistan Journal of Medical Research. 1999; 38 (1): 42-47
em Inglês
| IMEMR
| ID: emr-52200
ABSTRACT
We report here three cases of presumed Alport's Syndrome from different families presenting with mild to moderate renal failure. Two of these were teenage girls, while the third was a teenage boy. We confirmed positive family history in all cases and the mode of inheritance seemed to be Autosomal dominant, X-linked and Autosomal recessive among the three families. Sensori-neural deafness and bilateral anterior lenticonus was found in all of them. Renal biopsy was done in two cases. Histopathological changes on light microscopy were suggestive of Alport's syndrome. Electrone microscopy could not be done due to lack of facilities. Family counseling had a little impact, as apparently health family members declined to undergo screening procedures due to apprehension of having the similar disease. Hemodialysis is well-tolerated and kidney transplantation prolong renal and patient's survival. This paper highlights the fact that the condition is rather under diagnosed in our population and needs to be considered where appropriate
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Proteinúria
/
Revisão
/
Insuficiência Renal
/
Hematúria
/
Nefrite Hereditária
Tipo de estudo:
Relato de Casos
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Pak. J. Med. Res.
Ano de publicação:
1999
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