Clinical Aspects of a Rare Disease: Bardet Biedl Syndrome

Modern Medicine

卷:29

Claudia JURCA¹  Lacramioara BUTNARIU²  Monica PANZARU³  Lavinia CABA³  Cristina RUSU³  Magdalena BUDISTEANU⁴  Cristina STOICA⁵  Mihaela BALGRADEAN⁵  Ina Ofelia FOCSA⁵  Florina NEDELEA⁵ 

[1] Department of Genetics, Faculty of Medicine and Pharmacy, University of Oradea, Romania;

[2] Department of Medical Genetics, “Grigore T. Popa” University of Medicine and Pharmacy, Iasi, Romania;

[3] Department of Medical Genetics, „Grigore T. Popa” University of Medicine and Pharmacy, Iasi, Romania;

[4] Department of Medical Genetics, „Titu Maiorescu” University, Bucharest, Romania;

[5] „Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania;

关键词: bardet biedl syndrome;    ciliopathies;    multiorgan involvement;    pleiotropy;    oligogenic;    inheritance;   

DOI  :  https://doi.org/10.31689/rmm.2021.29.1.37

来源: DOAJ

【 摘 要 】

Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are rod-cone dystrophy, postaxial polydactyly, central obesity, urogenital anomalies, learning difficulties and kidney disease, however the impairment of any organ may complicate the clinical picture. Here we report on clinical findings of 25 patients diagnosed with BBS. Our study is the first on a cohort of Romanian BBS patients, aiming to emphasize the complexity of the disease that may have a devastating impact on patients and their families. Thus, an early clinical diagnosis is crucial for anticipation of other system and organ involvement. Periodic follow up, by a multidisciplinary team, may prevent several severe complications, which could accelerate or aggravate the most deleterious aspects of the disease: loss of vision or renal impairment.

【 授权许可】

Unknown