vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v22i6.2705vsp-3359Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSАнализ эффективности терапии при поздней диагностике синдрома Альпорта у ребенка: клинический случайAnalysis of the Treatment Efficacy in Late Diagnosis of Alport Syndrome in a Child: Clinical Casehttps://orcid.org/0000-0002-4147-2309ВолгинаС. Я.VolginaSvetlana Ya.

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https://orcid.org/0000-0002-9687-4583СоловьеваН. А.SolovyevaNailya A.

Соловьева Наиля Анасовна - кандидат медицинских наук, доцент кафедры госпитальной педиатрии.

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Nailya-soloveva@mail.ruhttps://orcid.org/0000-0003-1741-2629КулаковаГ. А.KulakovaGalina A.

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https://orcid.org/0000-0003-0873-8037КурмаеваЕ. A.KurmayevaElena A.

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https://orcid.org/0009-0002-4774-9468МухаметдиноваЛ. И.MukhametdinovaLiliya I.

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https://orcid.org/0000-0003-1450-8254РашитоваЭ. Л.RashitovaElina L.

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Казанский государственный медицинский университетРоссияKazan State Medical UniversityRussian FederationДетская поликлиника № 9РоссияChildren’s Polyclinic No. 9Russian Federation202312012024226537545Copyright © Волгина С.Я., Соловьева Н.А., Кулакова Г.А., Курмаева Е.A., Мухаметдинова Л.И., Рашитова Э.Л., 20232023Волгина С.Я., Соловьева Н.А., Кулакова Г.А., Курмаева Е.A., Мухаметдинова Л.И., Рашитова Э.Л.Volgina S.Y., Solovyeva N.A., Kulakova G.A., Kurmayeva E.A., Mukhametdinova L.I., Rashitova E.L.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/3359

Обоснование. Синдром Альпорта — системное, наследственное, прогрессирующее заболевание, характеризующееся ультраструктурными изменениями гломерулярной базальной мембраны, вызванными патогенными вариантами генов коллагена IV. Применение с целью нефропротекции ингибиторов ангиотензинпревращающего фермента (иАПФ) эффективно на стадии микрогематурии и/или альбуминурии. Тактика лечения при развитии нефротического синдрома у таких больных остается предметом дискуссии. Описание клинического случая. У пациента в период новорожденности выявлена протеинурия, в месячном возрасте — гематурия. В возрасте 6 лет диагностирован наследственный нефрит, назначен иАПФ, но протеинурия продолжила нарастать. В возрасте 8,5 лет диагноз подтвержден результатами пункционной нефробиопсии — установлены коллагенопатия, тип IV, фокально-сегментарный гломерулосклероз. Кроме того, диагностированы хроническая двусторонняя нейросенсорная тугоухость и двусторонний миопический астигматизм. Дополнительно назначен циклоспорин А (125 мг/сут). Через 14 мес лечения отмечено повышение концентрации в крови цистатина С, мочевины, мочевой кислоты, холестерина. При снижении дозы циклоспорина А до 100 мг/сут концентрации указанных показателей снизились, но вместе с тем отмечено увеличение протеинурии. В возрасте 10 лет 2 мес с целью усиления нефропротективной терапии назначен блокатор рецепторов ангиотензина II (кандесартан 8 мг/сут). В возрасте 11 лет выполнено повторное повышение дозы иммунодепрессанта, что привело к снижению расчетной скорости клубочковой фильтрации, увеличению концентрации в крови креатинина, цистатина С, мочевины, холестерина, мочевой кислоты и калия. Изменения расценены как циклоспоринозависимость. Доза циклоспорина А снижена до 125 мг/сут, а с 14-летнего возраста — до 100 мг/сут. При наблюдении пациента до возраста 15,5 лет отмечено прогрессирование хронической болезни почек. Заключение. Нефропротективное лечение ребенка с синдромом Альпорта, начатое после развития нефротического синдрома, не остановило прогрессирования хронической болезни почек. Добавление к лечению циклоспорина А в относительно высокой дозе снижало протеинурию, но привело к появлению признаков нефротоксичности и циклоспоринозависимости.

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.

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The authors declare that there are no conflicts of interest present.