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常染色体显性遗传性多囊肾病合并肥厚型心肌病:一例报告。

Autosomal dominant polycystic kidney disease combined with hypertrophic cardiomyopathy: A case report.

作者信息

Shen Yingjing, Xu Chenggang

机构信息

Department of Nephrology, Third Affiliated Hospital of Second Military Medical University, Shanghai, China.

出版信息

Medicine (Baltimore). 2017 Nov;96(46):e8625. doi: 10.1097/MD.0000000000008625.

Abstract

INTRODUCTION

This report describes the novel sampling of autosomal dominant polycystic kidney disease (ADPKD) combined with hypertrophic cardiomyopathy (HCM).

SYMPTOMS AND CLINICAL FINDINGS

A 48-year-old Chinese man presented with anasarca, hypourocrinia, gross hematuria, and weight gain by 10 kg subsequently developed acute kidney injury after struck by acute respiratory distress syndrome, really a threat to his heart.

DIAGNOSES

Abdominal ultrasound revealed multiple small cysts in both kidneys, with the right kidney measuring 11.6 cm in length, and the left kidney measuring 11.5 cm in length, which supported ADPKD. Echocardiography showed left ventricular posterior wall thickness measuring 15.2 mm, interventricular septum measuring 17.2 mm, left atrial size 31.9 mm, ejection fraction measuring 69%, approving the diagnose of HCM.

THERAPEUTICS INTERVENTIONS

Because of the failure treatment with tripterygium wilfordii and valsartan, the patient was administered with prednisone 1 mg/kg/day. Continuous renal replacement therapy was required to prevent heart and kidney from failure.

OUTCOMES

The patient responded well and his renal function improved.

CONCLUSION

This is the first reported case of ADPKD with HCM, with complete remission of acute kidney injury and preservation of cardiac function. Serial checks and measures should be considered for appropriate treatment of ADPKD patient who present with rapid decline of renal function. We present detailed analysis of the patient's disease course and review literature. Written informed consent was obtained from the patient for publication of this case report. It has been permitted by Committee on Ethics of Biomedicine, Second Military Medical University.

摘要

引言

本报告描述了常染色体显性遗传性多囊肾病(ADPKD)合并肥厚型心肌病(HCM)的新型病例。

症状与临床发现

一名48岁中国男性出现全身性水肿、少尿、肉眼血尿以及体重增加10千克,随后在遭受急性呼吸窘迫综合征后发展为急性肾损伤,这对其心脏构成了严重威胁。

诊断

腹部超声显示双肾有多个小囊肿,右肾长11.6厘米,左肾长11.5厘米,支持ADPKD诊断。超声心动图显示左心室后壁厚度为15.2毫米,室间隔厚度为17.2毫米,左心房大小为31.9毫米,射血分数为69%,证实了HCM的诊断。

治疗干预

由于雷公藤多苷和缬沙坦治疗无效,给予患者泼尼松1毫克/千克/天。需要持续肾脏替代治疗以预防心肾衰竭。

结果

患者反应良好,肾功能得到改善。

结论

这是首例报道的ADPKD合并HCM病例,急性肾损伤完全缓解且心脏功能得以保留。对于肾功能迅速下降的ADPKD患者,应考虑进行系列检查和采取相应措施以进行适当治疗。我们对该患者的病程进行了详细分析并复习了文献。已获得患者的书面知情同意以发表本病例报告。本研究已获得第二军医大学医学伦理委员会批准。

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Autosomal dominant polycystic kidney disease (ADPKD) associated with steroid-sensitive nephrotic syndrome in childhood.
Pediatr Nephrol. 2011 Apr;26(4):643-4. doi: 10.1007/s00467-010-1710-z. Epub 2010 Nov 30.
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Idiopathic membranous nephropathy associated with polycystic kidney disease.特发性膜性肾病合并多囊肾病。
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