nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное обществоnid-1360Research ArticleНАБЛЮДЕНИЯ ИЗ ПРАКТИКИCASE REPORTSСлучай «мягкого» варианта синдрома ПирсонаA case of mild variant of Pierson syndromeКаганМ. Ю.KaganM. Iu.mkaganorenburg@yahoo.comБервинаН. Н.BervinaN. N.noemail@neicon.ruЖанетоваА. А.JanetovaA. A.noemail@neicon.ruГУЗ Областная детская клиническая больница г. ОренбургRussian Federation20072306202592198202Copyright © Каган М.Ю., Бервина Н.Н., Жанетова А.А., 20252025Каган М.Ю., Бервина Н.Н., Жанетова А.А.Kagan M.I., Bervina N.N., Janetova A.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephro.ru/jour/article/view/1360

Врожденный нефротический синдром (ВНС) известен как гетерогенная патология, объединяющая группу заболеваний с конгенитальным повреждением клубочкового фильтра и плохим прогнозом. Большинство пациентов имеют прогрессирующую хроническую почечную недостаточность (ХПН) в раннем детском возрасте. Недавно были исследованы мутации в гене LAMB2 , кодирующем b2-ламинин, являющиеся причиной синдрома Пирсона, для которого характерно сочетание ВНС с комплексом врожденных аномалий органа зрения и, прежде всего, микрокорией. У детей, страдающих данным заболеванием, отмечалось раннее начало ХПН, отставание в психомоторном развитии и прогрессирующая слепота. Мы приводим результаты наблюдения за ребенком, имеющим ВНС, высокую степень миопии и другие структурные аномалии органа зрения, но без микрокории. У нашего пациента к возрасту 11 месяцев отсутствовала ХПН, и отмечалось нормальное психомоторное развитие. У него выявлена неизвестная ранее точковая гомозиготная мутация в гене LAMB2 . Наше наблюдение, наряду с двумя недавними описаниями «мягкого» варианта синдрома Пирсона, позволяет предположить определенную клиническую вариабельность данной патологии.

Congenital nephrotic syndrome (CNS) comprises a heterogeneous group of conditions having in common the disruption of normal glomerular permselectivity, and carries a poor prognosis, with most patients progressing to end stage renal disease. Recently mutations in the LAMB2 gene encoding b2 laminin were described as the cause of Pierson syndrome that is characterized by CNS and a complex ocular maldevelopment with microcoria as the most prominent clinical feature. Most affected children exhibit early onset of chronic renal failure, neurodevelopmental deficits, and blindness. We report on a patient with CNS, high grade myopia, and structural eye anomalies including remnants of pupilla membranes, but no microcoria. The patient did not develop renal failure by the age of 11 months and showed no neurodevelopmental deficits. He turned out to be homozygous for a novel LAMB2 missense mutation. This observation together with two recent reports on milder variants of Pierson syndrome corroborates the concept that the clinical expression of Pierson syndrome is more variable, and that milder phenotypes may be related to hypomorphic LAMB2 alleles.

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