背景:Laurence-Moon-Bardet-Biedl综合征(LMBBS)是一种罕见的常染色体隐性遗传疾病,其特征是多指,视网膜色素变性,肥胖,性腺机能减退和智力低下。
方法:一位20岁的男性,病态肥胖[BMI=41],有智力延迟史,言语障碍和进行性视力丧失。提交给萨韦塔医学院,金奈带着呼吸困难的主要抱怨,少尿,腹胀.经检查,患者身材矮小,肥胖,拥挤的牙齿,双脚多指,微阴茎和视网膜色素变性,眼球震颤.他有踏板水肿和面部浮肿。实验室调查显示Hb-6.9,肌酐-12,尿素217,钾-7.7,碳酸氢盐-8.3。回声显示偏心左心室肥厚。腹部CT显示肝肿大,右肾收缩伴肾盂脂肪瘤病,左肾肿大伴输尿管肾积水4级。
结果:他介绍了LMBBS的所有主要特征以及CKD第5阶段。他还有次要特征,比如说话延迟,发育迟缓,牙齿拥挤,高拱形腭,左心室肥厚。
结论:LMBBS是一种具有肥胖症状的疾病,性腺功能减退,智力障碍,多指和视网膜色素变性。肾功能丧失是这些患者死亡的最常见原因。由于看似无关的症状,该疾病在很大程度上仍未被诊断。受影响家庭的遗传咨询提高了人们对需要评估其他家庭成员的肾脏和心血管问题的认识。参考可汗PA,NishaatJ,NoorS,etal.LaurenceMoonBardetBiedl综合征:三级护理教学医院的罕见病例报告,海得拉巴,Telangana,印度。国际医学科学公共卫生2017;7(1):68-71。KatsanisN,LupskiJR,BealesPL.探讨Bardet-Biedl综合征的分子基础。HumMolGenet2001;10(20):2293-2299。
BACKGROUND: Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive disorder characterised by polydactyly, retinitis pigmentosa, obesity, hypogonadism and mental retardation.
METHODS: A 20-year old male, who is morbidly obese [BMI = 41] with history of intellectual delay, speech impairment and progressive vision loss. Presented to Saveetha medical college, Chennai with chief complaints of breathlessness, oliguria, abdominal distension. On examination patient had short stature, obese, crowded teeth present, had polydactyly of feet, micro penis and retinitis pigmentosa, nystagmus. He had pedal edema and facial puffiness. Laboratory investigations revealed Hb-6.9, creatinine-12, urea 217, potassium-7.7, bicarbonate-8.3. Echo showed eccentric Left ventricular hypertrophy. CT abdomen revealed hepatomegaly, right contracted kidney with renal pelvic lipomatosis, left enlarged kidney with hydroureteronephrosis grade 4.
RESULTS: He presented with all the primary Pentad features of LMBBS along with CKD stage 5. He also had secondary features like speech delay, developmental delay, dental crowding, high arched palate, left ventricular hypertrophy.
CONCLUSIONS: LMBBS is a disorder with an identified Pentad of symptoms which are obesity, hypogonadism, intellectual impairment, polydactyly and retinitis pigmentosa. Renal function loss is most common cause of mortality in these patients. Because of seemingly unrelated symptoms the disorder remains largely under diagnosed. Genetic counselling of effected families raise awareness about need to get the other family members assessed for renal and cardiovascular problems. References Khan PA, Nishaat J, Noor S, et al. Laurence Moon Bardet Biedl syndrome: a rare
case report in a tertiary care teaching hospital, Hyderabad, Telangana, India. Int J Med Sci Public Health 2017;7(1):68-71. Katsanis N, Lupski JR, Beales PL. Exploring the molecular basis of Bardet-Biedl syndrome. Hum Mol Genet 2001;10(20):2293-2299.