ESPN 51th Annual Meeting

ESPN 2018


 
X-LINKED ALPORT SYNDROME IN FEMALES: EXPIRIENCE OF ONE CENTER
MARINA AKSENOVA 1 LEV SHAGAM 1 NATALYA KONKOVA 1 VLADIMIR DLIN 1

1- Y.VELTISCHEV RESEARCH AND CLINICAL INSTITUTE FOR PEDIATRICS AT N.PIROGOV RUSSIAN NATIONAL RESEARCH MEDICAL UNIVERSITY
 
Introduction:

The prognosis of females with X-liked Alport syndrome (XLAS) has generally considered favorable.

Material and methods:

The aim of the study was to evaluate the phenotype in females with XLAS. The clinical and laboratory data were obtained from 11girls (Me age 12,3years) and 17 women (Me age 40,4years) from 26 families with genetically confirmed XLAS (2012- 2017yy). NGS sequencing was performed by Ion torrent NGS panel. Proteinuria was defined by a protein/creatinine ratio>0,1g/m2/day, albuminuria-by albumin/creatinine ratio>30mg/gr.

Results:

Only 1 girl (q=0,1) did not have proteinuria/albuminuria; 2 girls (q=0,18) had CKD of stage1 and sensorineural deafness (SND). The age of onset of albuminuria, proteinuria, GFR’decline and SND were 8,3; 11,4; 12,6 and 14 years, respectively. Despite the relatively young age of our cohort ESRD were revealed in 4 women (q=0,23), two of them (q=0,12) achieved ESRD up the 40 years; about 1/2 (q=0,59) and 1/3 (q=0,29) of women had proteinuria and SND, respectively.

Conclusions:

Our results show that the prognosis of females with XLAS is not benign. The strict clinical and laboratory evaluation should be considered in females with XLAS .