The variable course of women with X-linked Alport Syndrome.

X-linked Alport syndrome (XLAS) arises from mutations in the COL4A5 gene encoding the α5-chain of type IV collagen and is associated with hematuria, ocular abnormalities and high-tone sensorineural hearing loss. Nearly all affected males have decreased kidney function resulting in end-stage renal disease (ESRD) as early as the second decade of life. It was long thought that affected females had a benign outcome; however, in recent decades, it has become quite clear that they too are at risk for developing nephrotic syndrome, decreased kidney function and ESRD. We report two young females presenting with microscopic hematuria and proteinuria diagnosed with XLAS on renal biopsy. Both developed nephrotic-range proteinuria and progressive renal insufficiency. Additionally, both developed extra-renal manifestations of XLAS. The ultrastructural and immunofluorescence features on kidney biopsy were instrumental in making the diagnosis of heterozygous XLAS as neither patient had a family history of AS.

Gender and status asthmaticus.

BACKGROUND: Adult women may be more susceptible to asthma than men. HYPOTHESIS: Women are more likely to develop status asthmaticus (SA) requiring critical care. METHODS: The medical records of patients admitted to our medical intensive care unit (ICU) for SA between 1994 and 2000 were examined. A number of demographic and physiologic variables were extracted from the medical records. RESULTS: Of 103 total admissions, 53 (of 37 patients) were age < 50 years and had clinical evidence suggesting SA. Among these 37 patients, the average (+/-SE) age was 30.8 +/- 1.0 y with average acute physiology and chronic health evaluation (APACHE) II of 9.5 +/- 0.8. Seventeen patients were Hispanic, 13 were black, and 7 were white. Twenty-four patients (accounting for 37 admissions) were female and 13 patients (16 admissions) were male. Although women accounted for a greater absolute number of endotracheal intubations (ETI; 17 vs. 12) and were more likely to be admitted to ICU more than once (7 vs. 3), men had a higher incidence of ETI (RR=1.6; 95%CI=1.04-2.6). The need for using therapeutic permissive hypercapnia and lengths of stay (ventilator, ICU, and hospital) were similar between men and women. Two patients, both women, died of causes not related to treatment of SA. CONCLUSIONS: These data suggest that although women accounted for more ICU admissions for SA, men were more likely to require ETI.