Analysis of the Treatment Efficacy in Late Diagnosis of Alport Syndrome in a Child: Clinical Case

Abstract

Background. Alport syndrome is a systemic, hereditary, progressive disease characterized by ultrastructural changes in the glomerular basement membrane caused by pathogenic variants of type IV collagen genes. The use of angiotensin-converting enzyme inhibitors (ACEI) for nephroprotection is effective at the microhematuria and/or albuminuria stage. Treatment tactics in case of nephrotic syndrome development in such patients remains the subject of discussion. Clinical case description. The patient was diagnosed with proteinuria at the neonatal period and hematuria at the age of one month. The hereditary nephritis was diagnosed at the age of 6 years; the ACEI was administered, however, the proteinuria continued to increase. The diagnosis was confirmed at the age of 8.5 years via the puncture nephrobiopsy: collagenopathy, type IV, focal segmental glomerular sclerosis. Moreover, chronic bilateral sensorineural hearing loss and bilateral myopic astigmatism were diagnosed. Ciclosporin A (125 mg/day) was additionally prescribed. The increase in the cystatin C, urea, uric acid, cholesterol levels in blood was mentioned after 14 months of treatment. These parameters decreased after reducing cyclosporine A dose to 100 mg/day, however, proteinuria has increased. Angiotensin II receptor blocker (candesartan 8 mg/day) was prescribed to enhance nephroprotective therapy at the age of 10 years 2 months. Another increase of the immunodepressant dose was performed at the age of 11, it led to decrease in the estimated glomerular filtration rate and increase of creatinine, cystatin C, urea, cholesterol, uric acid, and potassium levels in the blood. These changes were considered as cyclosporine-dependent. The dose of cyclosporine A was reduced to 125 mg/day, and to 100 mg/day from the age of 14. There was no progression of chronic kidney disease at the follow-up at the age of 15.5 years. Conclusion. Nephroprotective treatment of a child with Alport syndrome initiated after the development of nephrotic syndrome did not stop the chronic kidney disease progression. Whereas relatively high doses of ciclosporin A have reduced proteinuria but led to nephrotoxicity and cyclosporin dependence.