ESPN 51th Annual Meeting

ESPN 2018


 
Clinical and Pathologic Characteristics of Genetically Confirmed Alport Syndrome Patients
REZAN TOPALOGLU 1 GULSAH OZDEMIR 1 BORA GULHAN 1 EMINE ATAYAR 2 ALI DUZOVA 1 ALPER SOYLU 3 BIRSIN OZCAKAR 4 OGUZ SOYLEMEZOGLU 5 FATIH OZALTIN 1

1- DIVISION OF PEDIATRIC NEPHROLOGY, HACETTEPE UNIVERSITY FACULTY OF MEDICINE, ANKARA, TURKEY
2- DIVISION OF PEDIATRIC NEPHROLOGY, NEPHROGENETICS LABORATORY, HACETTEPE UNIVERSITY FACULTY OF MEDICINE, ANKARA, TURKEY
3- DIVISION OF PEDIATRIC NEPHROLOGY, DOKUZ EYLÜL UNIVERSITY FACULTY OF MEDICINE, İZMİR, TURKEY
4- DIVISION OF PEDIATRIC NEPHROLOGY, ANKARA UNIVERSITY FACULTY OF MEDICINE, ANKARA, TURKEY
5- DIVISION OF PEDIATRIC NEPHROLOGY, GAZI UNIVERSITY FACULTY OF MEDICINE, ANKARA, TURKEY
 
Introduction:

Alport Syndrome (AS) is an inherited glomerular disease caused by mutations in COL4A3, COL4A4 or COL4A5. Here, we report clinical characteristics of genetically confirmed AS patients.

Material and methods:

A total of 31 (14 female, 17 male) AS patients (COL4A5, n=18; COL4A3, n=7; COL4A4, n=6) were studied. Patients’ demographics, first clinical presentation, extrarenal abnormalities, renal biopsy findings, genetic test results and follow-ups were noted. 

Results:

Mean age at first presentation was 6.3±4.5 years; 27 patients (87%) had hematuria and 19 (61%) had proteinuria. Sensorineural hearing loss was detected in 13 patients (41%). Renal biopsy was performed in 24 patients (77%). The most common pathologic finding was FSGS (n=8, 33%). 10 patients were diagnosed as nephrotic syndrome (NS) before molecular diagnosis of AS and their histopathological investigation showed FSGS in 8 patient and other changes in 2 patients. Mutation analysis uncovered mutations in COL4A3 (n=4), COL4A4 (n=2) and COL4A5 (n=2) in these FSGS patients. Of 10 NS patients, 4 received only steroid, 4 received steroid+cyclosporine and 2 received steroid+cyclophosphamide prior to genetic diagnosis. Mean follow-up duration of all patients was 6.47±4.62 years, which was similar for males and females. At the last visit, median eGFR of all patients was 140 ml/min/1.73 m2  and it was similar for females and males. Median eGFR of the females with hearing loss was significantly lower than those without hearing loss (p=0.03). During follow-up, 8 patients (3 females, 5 males) progressed to chronic kidney disease. Of them, 5 had COL4A3 and 3 had COL4A5 mutations. At the last visit median eGFR of the patients with COL4A3 was lower than the others (p=0.04).

Conclusions:

Alport syndrome is an important differential diagnosis in patients with nephrotic syndrome associated with FSGS. Hematuria is an indicative evidence. Genetic screening can solve the problem and thereby prevent unnecessary use of immunosuppressives.