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Diagnosis of Alport syndrome and thin basement membrane nephropathy
in childhood
1
Klinika Nefrologii Dziecięcej, Uniwersytet Jagielloński Collegium Medicum w Krakowie
Corresponding author
Anna Moczulska
Klinika Nefrologii Dziecięcej, Uniwersytet Jagielloński Collegium Medicum w Krakowie, ul. Wielicka 265, 30-663 Kraków
Klinika Nefrologii Dziecięcej, Uniwersytet Jagielloński Collegium Medicum w Krakowie, ul. Wielicka 265, 30-663 Kraków
Ann. Acad. Med. Siles. 2017;71:73-81
KEYWORDS
TOPICS
ABSTRACT
Introduction:
The Alport syndrome (AS) and thin basement membrane nephropathy (TBMN) are glomerulopathies of genetic origin difficult to differentiate, with no predictors of a long term outcome. The aim of the study was to analyze clinical data regarding kidney histopathology in children with AS and TBMN.
Material and methods:
The study group consisted of 53 children (27 girls) aged 9.5 years, treated for AS (n = 25) or TBMN (n = 28) at University Children's Hospital of Cracow between 1988–2015. The kidney biopsy result was correlated with clinical data in both groups using Statistica12 (Statsoft).
Results:
Hematuria was diagnosed in all the children at the age of 1–17 (median 6 years) and proteinuria in 14 patients with AS (56%). The follow-up time before biopsy was longer in TBMN – 38 vs. 11 months (p = 0.01). In 11 (39%) TBMN patients mesangial proliferation was observed. Among the AS patients in 4 cases (16%) no kidney pathology was found. Multiple regression analysis indicated an irregular basement membrane structure as the most significant predictor for proteinuria (R2 = 0.56, p = 0.011). Therapy with ACEI was introduced in 14 patients with proteinuria, prednisone in 8 patients, cyclosporine A in 8 and methylprednisolone pulses in 2. Two boys progressed to end stage renal failure before the age of 18 years. Two patients with TBMN developed proteinuria in later follow-ups.
Conclusions:
Proteinuria and irregularity of basement membrane in children with AS and TBMN are predictors of poor prognosis. Hematuria and thinning of basal membrane do not ensure benign follow-up. Early kidney biopsy in young children with isolated hematuria seems to be not useful. Intorduction of genetical testing is needed for early diagnosig instead.
The Alport syndrome (AS) and thin basement membrane nephropathy (TBMN) are glomerulopathies of genetic origin difficult to differentiate, with no predictors of a long term outcome. The aim of the study was to analyze clinical data regarding kidney histopathology in children with AS and TBMN.
Material and methods:
The study group consisted of 53 children (27 girls) aged 9.5 years, treated for AS (n = 25) or TBMN (n = 28) at University Children's Hospital of Cracow between 1988–2015. The kidney biopsy result was correlated with clinical data in both groups using Statistica12 (Statsoft).
Results:
Hematuria was diagnosed in all the children at the age of 1–17 (median 6 years) and proteinuria in 14 patients with AS (56%). The follow-up time before biopsy was longer in TBMN – 38 vs. 11 months (p = 0.01). In 11 (39%) TBMN patients mesangial proliferation was observed. Among the AS patients in 4 cases (16%) no kidney pathology was found. Multiple regression analysis indicated an irregular basement membrane structure as the most significant predictor for proteinuria (R2 = 0.56, p = 0.011). Therapy with ACEI was introduced in 14 patients with proteinuria, prednisone in 8 patients, cyclosporine A in 8 and methylprednisolone pulses in 2. Two boys progressed to end stage renal failure before the age of 18 years. Two patients with TBMN developed proteinuria in later follow-ups.
Conclusions:
Proteinuria and irregularity of basement membrane in children with AS and TBMN are predictors of poor prognosis. Hematuria and thinning of basal membrane do not ensure benign follow-up. Early kidney biopsy in young children with isolated hematuria seems to be not useful. Intorduction of genetical testing is needed for early diagnosig instead.
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