A study of genetic causes of congenital and infantile nephrotic syndrome in children of Russian Federation

Milovanova, A.M.; Pushkov, Alexander; Savostyanov, K.V.; Zrobok, O.I.; Vashurina, T.V.; Ananin, P.V.; Stolyarevich, E.S.; Фисенко, А.П.; Цыгин, А. Н.

doi:10.28996/2618-9801-2021-1-57-72

Cited by 2 publications

(1 citation statement)

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“…На базе нефрологического отделения и лаборатории медицинской геномики проведено ретро-и проспективное исследование генетических причин первичного СРНС, включившее 250 детей [5]. Протокол исследования был рассмотрен и одобрен локальным независимым этическим комитетом ФГАУ «НМИЦ здоровья детей», протокол №16.…”

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Clinical heterogenity of Russian children with a CRB2 gene defect

Милованова¹,

Вашурина²,

Ананьин³

et al. 2021

Nauchno-Prakticheskii Zhurnal «Medicinskaia Genetika

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Нефротический синдром, вызванный нуклеотидными вариантами в гене CRB2, является редким и недостаточно хорошо изученным состоянием. На настоящий момент существует лишь несколько сообщений об этой патологии и нет ни одного описания мягкого течения заболевания. Целью настоящего сообщения является демонстрация фенотипических особенностей нефротического синдрома, вызванного мутациями в гене CRB2, и обоснование дальнейшего изучения его генетических причин. На базе нефрологического и молекулярно-генетического отделений ФГАУ «НМИЦ здоровья детей» проведено ретро- и проспективное исследование генетических причин первичного стероидрезистентного нефротического синдрома (СРНС), включившее 250 детей. Среди 250 детей лишь двое имели причинные нуклеотидные варианты в гене CRB2 (0,8% от всех детей с СРНС и 1,21% от детей с выявленными генетическими причинами СРНС). Дети имели разные течение болезни и выраженность экстраренальных проявлений. Выводы: нефротический синдром, вызванный мутациями в гене CRB2, является чрезвычайно редкой патологией. Нами описано два случая с абсолютно разным клиническим течением. Nephrotic syndrome (NS) with variants in the CRB2 gene is a rather rare condition, and there are only a few reports of its severe course and no one of mild one. The aim of the communication is to demonstrate the phenotypic features of nephrotic syndrome caused by mutations in the CRB2 gene. On the basis of the nephrological and molecular-genetic departments of the Federal State Autonomous Institution “National Medical Research Center of Children’s Health” we performed retro- and prospective study of the genetic causes of primary steroid-resistant nephrotic syndrome, included 250 children. Among 250 children, only two had causative nucleotide variants in the CRB2 gene (0.8% of all children with steroid-resistant and 1.21% of children with identified genetic causes of SRNS). Children had a different course of the disease and the severity of extrarenal manifestations

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Section: методыunclassified

Clinical heterogenity of Russian children with a CRB2 gene defect

Милованова¹,

Вашурина²,

Ананьин³

et al. 2021

Nauchno-Prakticheskii Zhurnal «Medicinskaia Genetika

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A clinical case of a developmental disorder of the nervous system with involuntary movements associated with the spectrum of GNAO1-associated diseases

Кузенкова

Lyalina

Zyryanova

et al. 2023

Nevrol. ž. im. L.O. Badalâna

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Nervous Developmental Disorder with Involuntary Movements (NEDIM) (OMIM 617493) is a rare movement disorder in children on the spectrum of GNAO1-associated movement disorders. With NEDIM, movement disorders appear in early childhood, progress and lead to disability. The disease is caused by pathogenic heterozygous variants in the GNAO1 gene and has an autosomal dominant mode of inheritance. The epidemiology of NEDIM has not yet been established. Clinical symptoms are extensive, ranging from severe motor and cognitive impairment with self-injurious behaviour and seizures to a mild phenotype of movement disorders without mental retardation and seizures. Some patients develop epilepsy. Hyperkinetic syndrome in most children is manifested with chorea, athetosis, dystonia, and ballism, affecting the muscles of the body, limbs and face. According to MRI, in some patients, gradually progressive atrophy of the brain substance is visualized. Currently, the disease has no developed pathogenetic methods of therapy. Treatment is symptomatic, including various drug regimens to reduce the severity of movement disorders and seizures. Management of nutrition of the patient and the prevention of secondary complications of movement disorders are also important. In foreign sources there is described the experience of using topiramate and teterabenazine, as well as deep brain stimulation (DBS), which demonstrate a good effect in the form of a significant reduction in the frequency of dystonic storms and the severity of motor disorders. The article presents a clinical case of diagnosis and treatment of a child with this disease, and also current trends in therapy.

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A study of genetic causes of congenital and infantile nephrotic syndrome in children of Russian Federation

Cited by 2 publications

References 0 publications

Clinical heterogenity of Russian children with a CRB2 gene defect

Clinical heterogenity of Russian children with a CRB2 gene defect

A clinical case of a developmental disorder of the nervous system with involuntary movements associated with the spectrum of GNAO1-associated diseases

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