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.
引用
收藏
页数:7
相关论文
共 50 条
  • [1] Splenic lobulations in Bardet-Biedl syndrome: A first case report
    Doneray, H.
    Orbak, Z.
    GENETIC COUNSELING, 2006, 17 (03): : 295 - 300
  • [2] Craniopharyngioma and Bardet-Biedl syndrome -: A case report
    Erel, CT
    Oral, E
    Senturk, LM
    Aksu, MF
    JOURNAL OF REPRODUCTIVE MEDICINE, 2001, 46 (05) : 501 - 503
  • [3] Blepharospasm in Bardet-Biedl syndrome: A case report
    Roselli, F
    De Tommaso, M
    Aniello, MS
    Livrea, P
    Defazio, G
    EUROPEAN NEUROLOGY, 2002, 48 (04) : 230 - 232
  • [4] Bardet-Biedl syndrome: A rare case report from North India
    Kumar, Sumir
    Mahajan, Bharat B.
    Mittal, Jyotisterna
    INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY, 2012, 78 (02):
  • [5] Bardet-Biedl syndrome: a case series
    Elawad, Omer Ali Mohamed Ahmed
    Dafallah, Mumen Abdalazim
    Ahmed, Mohammed Mahgoub Mirghani
    Albashir, Ahmed Abdalazim Dafallah
    Abdalla, Sahar Mohammed Abbas
    Yousif, Habiballa Hago Mohamed
    Elbait, Anwar Ali Elamin Daw
    Mohammed, Moawia Elbalal
    Ali, Hassan Ismail Hassan
    Ahmed, Mohamed Mutasim Mohamed
    Mohammed, Najla Fouad Nassir
    Osman, Fadwa Hashim Mohamed
    Mohammed, Mussab Alnazeer Yousif
    Abu Shama, Ejlal Ahmed Ebrahim
    JOURNAL OF MEDICAL CASE REPORTS, 2022, 16 (01)
  • [6] Bardet-Biedl syndrome: a case series
    Mendes, Ana Raquel
    Lopes, Andreia
    Lobo, Ana Luisa
    Ferreira, Cristina
    Aguiar, Maria Isolina
    Tavares, Claudia
    Meireles, Carla
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 567 - 568
  • [7] A rare case of Bardet-Biedl syndrome
    Shrinkhal
    Singh, Anupam
    Agrawal, Ajai
    Mittal, Sanjeev Kumar
    Udenia, Hemlata
    Bandu, Ghawghawe Harshad
    TAIWAN JOURNAL OF OPHTHALMOLOGY, 2020, 10 (02) : 138 - 140
  • [8] Bardet-Biedl syndrome with unique manifestations of congenital giant nevi and refractory anemia: a case report from Palestine
    Milhem, Mohammad
    Shehadeh, Daleen
    Abu Nawa, Yasmeen
    Arman, Roa
    Masri, Lara
    Salman, Zeena
    Najajreh, Mohammad
    ANNALS OF MEDICINE AND SURGERY, 2024, 86 (05): : 3094 - 3098
  • [9] Bardet-Biedl syndrome in a 32-year-old Iranian female
    Porkar, Nastaran Farahmand
    Monfared, Ali
    Karkan, Morteza Fallah
    CLINICAL KIDNEY JOURNAL, 2013, 6 (04): : 447 - 447
  • [10] Bardet-Biedl syndrome associated with vaginal atresia:: a case report
    Uguralp, S
    Demircan, M
    Çetin, S
    Sigirci, A
    TURKISH JOURNAL OF PEDIATRICS, 2003, 45 (03) : 273 - 275