Bardet-Biedl综合征-印度马拉特瓦达地区一例罕见病例

Kharche Jyoti, P. Vikrant, Yadav Pawan, Quazi Kashifuddin, K. Amit
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摘要

Bardet-Biedl综合征(BBS)是一种罕见的遗传性疾病(常染色体隐性纤毛病),涉及多个系统和广泛的临床特征。这种疾病的特征是锥杆营养不良,轴后多指畸形,躯干肥胖,肾脏异常和学习困难。它也可能与男性睾丸体积缩小和功能下降(性腺功能减退)和女性复杂的泌尿生殖系统异常有关。Bardet-Biedl综合征是一种常染色体隐性遗传性状。它对男性和女性的影响是平等的。这种综合征通常是在儿童时期根据彻底的临床评估和特征性发现(例如,由于视网膜营养不良、肥胖、多指畸形引起的视力问题)诊断出来的。基因检测可能有助于在特定情况下诊断该疾病(例如,具有某些BBS1和BBS10基因突变的个体)。Bardet-Biedl综合征的治疗是针对每个人明显的特定症状。治疗可能需要一组专家的协调努力。我们报告一例28岁的Bardet-Biedl综合征女性患者,她在门诊表现为运动松散,腹痛不清,全身肿胀和尿量减少。她有肥胖、视力减退和多指畸形史。经调查,她有慢性贫血、肾功能紊乱和视网膜色素变性。
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Bardet-Biedl Syndrome- A Rare Case Presenatation In Marathwada Region Of India
Bardet-Biedl syndrome (BBS) is a rare, genetic disorder (autosomal recessive ciliopathy) with involvement of multiple systems and wide spectrum of clinical features. Characteristic features of this disorder are cone-rod dystrophy, postaxial polydactyly, truncal obesity, kidney abnormalities and learning difficulties. It may also be associated with diminished size and decreased function of the testes in males (hypogonadism) and complex genitourinary abnormalities in females. Bardet-Biedl syndrome is inherited mostly as an autosomal recessive trait. It affects males and females equally. This syndrome is usually diagnosed in childhood based upon thorough clinical evaluation and detection of characteristic findings (e.g., visual problems due to retinal dystrophy, obesity, polydactyly). Genetic testing may assist in diagnosing the disorder in selected cases (e.g., individuals with certain BBS1 and BBS10 gene mutations). The treatment of Bardet-Biedl syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the co-ordinated efforts of a team of specialists.We present a case of 28yrs female patient with Bardet-Biedl syndrome who presented in out-patient department with episodes of loose motions, vague abdominal pain,swelling all over body and decreased urine outut. She had history of obesity, diminished vision and polydactyly. On investigations she had anemia of chronic disease, deranged renal fuction tests and retinitis pigmentosa.
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