Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine

被引:0
|
作者
Karmi, Hamza B. [1 ]
Abu Jwaid, Yahya [1 ]
Shehadeh, Mohammad Hakam [1 ]
Njoom, Dareen [1 ]
Awwad, Aya [1 ]
Eideh, Hasan [2 ]
机构
[1] Al Quds Univ, Fac Med, Med Res Club, Jerusalem, Palestine
[2] Palestine Med Complex PMC, Dept Pediat Endocrinol, Ramallah, Palestine
来源
FRONTIERS IN PEDIATRICS | 2024年 / 12卷
关键词
Bardet-Biedl syndrome; type; 2; diabetes; retinitis pigmentosa; FBN3; gene; Palestine; OBESITY;
D O I
10.3389/fped.2024.1420684
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by retinitis pigmentosa, polydactyly, type 2 diabetes mellitus, and obesity. This case report presents a 19-year-old male from Palestine with BBS, exhibiting delayed diagnosis and variable phenotypic expression. The patient had familial BBS history and presented with obesity, type 2 diabetes mellitus, retinitis pigmentosa, and cryptorchidism. Genetic analysis identified heterozygous missense variants in the FBN3 gene, yet additional genetic factors may contribute to the phenotype. Renal abnormalities included kidney shrinkage and mild hydronephrosis. Management of this patient involves a multidisciplinary approach with lifestyle modifications, surgical interventions, and supportive care. Early diagnosis, genetic counseling, and regular follow-up are crucial for improving outcomes in BBS. This report highlights diagnostic and therapeutic challenges and underscores the need for further research on this complex disorder.
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页数:7
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