常染色体显性多囊肾病:乍得的一种未知疾病

M. G, Mahamat Hissein A, Soukaya B, Hagre Youssouf D, Adneli Alliance T, A. Y, Senoussi C, Fotclossou T
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摘要

常染色体显性多囊肾病(ADPKD)是最常见的遗传性肾脏疾病。经过大约十年的演变,它会导致肾功能缓慢而渐进的丧失,最终导致肾功能不全和肾衰竭。非洲和乍得关于这种病理的资料很少。本研究的目的是分析ADPKD的流行病学、诊断和治疗方面的问题。方法:这是一项多中心横断面、描述性和分析性研究,在乍得恩贾梅纳的两家医院进行,为期34个月。所有年龄在15岁及以上、有多囊肾病家族史、住院或前来就诊且符合ADPKD超声诊断统一标准(Pei修改的Ravine标准)的患者均纳入研究。研究了这些患者的临床、临床旁、治疗和进化标准。结果:本组共26例多囊肾病,医院患病率为1.16%。平均年龄为42.4岁,极端年龄在15-70岁之间,性别比为1.3。家庭调查显示,34.6% (n=9)存在亲本血缘关系。高血压患病率为53.8% (n=14)。平均血清肌酐为45 mg/l,极值范围为4.5 ~ 274.42 mg/l。值得注意的是,65.3% (n=17)患有慢性肾脏疾病,GFR bb0 30 mL/min/1.73m2。诊断时26.9% (n=7)患有终末期肾病(ESRD),其中2例在诊断两年后进展为ESRD。1例患者因慢性血液透析住院。没有患者接受过肾移植,没有患者接受过分子生物学和遗传学研究,也没有患者接受过托伐普坦治疗。结论:乍得ADPKD医院患病率为1.16%,主要为青壮年(平均年龄42.4岁),以男性为主。治疗通常很晚,仍然局限于有并发症的对症治疗,如慢性肾衰竭。缩写:ADPKD:常染色体显性多囊肾病,CRF:慢性肾衰竭,ESRD:终末期肾病,CVA:脑血管意外
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Autosomal Dominant Polycystic Kidney Disease: An Unknown Disease in Chad
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease. After about ten years of evolution, it leads to a slow and progressive loss of kidney function eventually causing renal insufficiency and kidney failure. Few data exist on this pathology in Africa and Chad. The objective of this study was to analyze the epidemiological, diagnostic and therapeutic aspects of ADPKD. Methodology: This was a multicenter cross-sectional, descriptive and analytical study conducted over a period of 34 months in two hospitals in N’Djamena, Chad. All patients aged 15 years and above, having a family history of polycystic kidney disease, which were hospitalized or who were coming for consultation that met the unified criteria for ultrasonographic diagnoses (Ravine criteria modified by Pei) of ADPKD were included in the study. The clinical, paraclinical, therapeutic and evolutionary criteria for these patients had been studied. Results: There were a total of 26 cases of polycystic kidney disease that had a hospital prevalence of 1.16%. The average age was 42.4 years with extremes ranging from 15-70 years and a sex ratio of 1.3. The family survey had shown that parental consanguinity was present in 34.6% (n=9). The prevalence of hypertension was 53.8% (n=14). The mean serum creatinine was 45 mg/l with extremes ranging from 4.5 to 274.42 mg/l. It was noted that 65.3% (n=17) had chronic kidney disease with a GFR >30 mL/min/1.73m2 . During diagnosis 26.9% (n=7) had end-stage renal disease (ESRD), while 2 patients progressed to ESRD two years after diagnosis. One patient was hospitalized for chronic hemodialysis. No patient had received a kidney transplant and no patient had undergone a molecular biology and genetics study or had been treated with Tolvaptan. Conclusion: In Chad, the hospital prevalence of ADPKD was 1.16%, affecting young adults (average age of 42.4 years) with a male predominance. Management is usually late and remains limited to symptomatic treatment with complications such as chronic renal failure. Abbreviations: ADPKD: Autosomal Dominant Polycystic Kidney Disease, CRF: Chronic Renal Failure, ESRD: End-Stage Renal Disease, CVA: Cerebro Vascular Accident
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