Abstract
The paper gives the data available in the literature, which reflect the manifestations, diagnosis, and treatments of the rare inherited disease Allgrove syndrome in children. Emphasis is placed on major difficulties in the differential and true diagnosis of this severe disease. The authors describe their clinical cases. Particular emphasis is laid on the clinical symptoms of the disease and on its diagnostic methods, among which the DNA diagnosis is of most importance. The probands were found to have mutations in the AAAS gene: in one case there was a mutation (c.856 C> T, p.Arg286Term) in homozygous state, which is described in the International Human Mutation Database (CM 10151); in other case there was a change in nucleotide sequence (c.709 delC), which is undescribed in the mutation and polymorphism databases and which leads to premature termination of the protein. It is shown that awareness of Allgrove syndrome among clinicians is low and the interdisciplinary approach is of importance.
Highlights
Emphasis is placed on major difficulties in the differential and true diagnosis of this severe disease
Particular emphasis is laid on the clinical symptoms of the disease and on its diagnostic methods, among which the DNA diagnosis is of most importance
C> T, p.Arg286Term) in homozygous state, which is described in the International Human Mutation Database (CM 10151); in other case there was a change in nucleotide sequence (c.709 delC), which is undescribed in the mutation and polymorphism databases and which leads to premature termination of the protein
Summary
Клинический полиморфизм синдрома Олгрова (синдром «трех А») у детей, возможности ранней диагностики и подходы к терапии. Ключевые слова: дети, синдром Олгрова, синдром “трех А”, надпочечниковая недостаточность, алакримия, ахалазия кардии пищевода, ДНК-диагностика, ген ААА, лечение, профилактика. Больным с алакримией следует проводить эндокринологическое, неврологическое обследование и ДНК-диагностику с исследованием гена AAAS, а при подозрении на синдром Олгрова без явной алакримии – пробу Ширмера. А – физическое развитие выше среднего, дисгармоничное за счет дефицита массы тела, общее потемнение кожных покровов с гиперпигментацией кожи в области коленных суставов, умеренная гипотрофия мышц голеней; особенности фенотипа: гипомимичное лицо, узкий лицевой скелет, удлиненный фильтр – расстояние между верхней губой и носом, тонкая верхняя губа, опущенные углы рта; б – особенности положения тела на полусогнутых ногах, нарушение осанки; в – гиперпигментация кожных покровов. В связи с этими дополнительными данными эндокринологом заподозрен синдром Олгрова (хроническая надпочечниковая недостаточность, алакримия, ахалазия кардии пищевода).
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