Introduction:
The clinical spectrum and prognosis of kidney disease in females with X-linked Alport syndrome (XLAS) is variable. The aim of the study was to evaluate the clinical phenotype in girls with XLAS.
Methods:
The clinical, laboratory, audiometric and ophthalmologic data from girls with pathogenic variants in COL4A5 (n=74, age at the last observation 11[6,5;16] yrs) were analized in single center study. Albuminuria and priteinuria were defined as Alb>30 mg/mmol Cr in 3 consecutive samples and urine protein >100 mg/m2/day, respectively; eGFR was calculated by Swartz bedside equation. Patients were divided in 2 groups, according to mutations in COL4A5: missense (n=54) and non-missense variants (n=20).
Results:
All girls had hematuria, macrohematuria was observed in 27% of pts. Proteinuria and eGFR<90 ml/min/1,73m2 were developed in 40% and 15% of pts, respectively, exrtrarenal symptoms were seen in about 15% of pts during the follow up: sensorineural deafness (SND) in 8% and retinopathies in 7%. Pts with non missense COL4A5 variants more often had macrohematuria (0,15 vs 0,05; p=0,015) and albuminuria (1 vs 0,5; p<0,001). There were no statistical significant difference in prevalence and age of onset of proteinuria (0,48 vs 0,5; 6,5[3;11] vs 5[5;8] yrs; p>0,05), decreased eGFR (0,15 vs 0,15; 12,4±5,6 vs 13,2±2,8 yrs; p>0,05), SND (0,07 vs 0,1; 13±3,8 vs 14,4±3,1 yrs; p>0,05) and retinopathies (0,04 vs 0,15; 14,3±3,5 vs 1,6±4,9 yrs; p>0,05) between pts with non missense and missense COL4A5 variants, respectively. The girls 16 years and older had a 50% risk of proteinuria and 20% risk of decreased eGFR and SND.
Conclusions:
Our data suggest that more than 1/3 of girls with XLAS had progressive CKD with a risk of proteinuria and decreased GFR by age 16 in 50% and 20%, respectively. Extrarenal manifestations were documented in 15% of pts. There was no genotype-phenotype correlation observed in our study. We believe that female with XLAS should be carefully monitored and receive appropriated ACEi treatment.
I have no potential conflict of interest to disclose.
I did not use generative AI and AI-assisted technologies in the writing process.