ISSN:
1432-198X
Keywords:
Key words Fechtner syndrome
;
Alport syndrome
;
Thrombocytopenia
;
End-stage renal disease
;
Adolescent
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Fechtner syndrome, a disease in the spectrum of the hereditary nephridites, is a macrothrombocytopenia associated with sensorineural hearing loss, cataracts, nephritis, and characteristic leukocyte inclusions. Renal biopsy findings are consistent with those of Alport syndrome, and the associated renal disease is said to be unusual before mid to late adulthood. Here, we review the available literature on this disease and report two African-American pediatric patients with Fechtner syndrome who rapidly progressed to end-stage renal disease during adolescence. We conclude that chronic renal failure can occur at a young age in patients with Fechtner syndrome, with a possible relation to race/ethnicity. Fechtner syndrome, or other variants of Alport syndrome, need to be considered in patients presenting with proteinuria and thrombocytopenia.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004670050700
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