Renal-coloboma syndrome includes abnormalities in the urogenital and ocular systems as its primary manifestations, although it can be associated with abnormalities in other systems as well. This syndrome is caused by mutations in the PAX2 gene and is transmitted as an autosomal dominant trait. We report a family in which at least 7 members have manifestations of renal-coloboma syndrome, including two in whom renal disease was diagnosed prenatally by ultrasound examination. A pathogenic frame-shift mutation (619insG) was found in the PAX2 gene in affected family members, who show remarkable variability in both the ocular and renal manifestations of the syndrome.
Peritonitis is an unusual extrapulmonary manifestation of coccidioidomycosis. Peritoneal involvement often has an indolent course and may resolve spontaneously. Optimal management has not been defined; however, fluconazole's spectrum of activity, pharmacokinetic profile, and efficacy in dialysis-related yeast peritonitis suggest that it may be an effective treatment. To our knowledge, we report the first case of coccidioidal peritonitis treated with fluconazole and review the literature.
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