Delayed Diagnosis of Alport Syndrome Without Hematuria

Authors

  • Chen Yin-Yin Department of Nephrology, Second Xiangya Hospital, Renal Research Institute of Central South University, Central South University, Changsha, China Author
  • Peng You-Ming Department of Nephrology, Second Xiangya Hospital, Renal Research Institute of Central South University, Central South University, Changsha, China Author
  • Liang Yu-Mei Department of Nephrology, Hunan Provincial People’s Hospital, Hunan Normal University, Changsha, China Author

Abstract

Alport syndrome is a progressive hereditary disease caused by mutations in the genes encoding type IV collagen. Persistent microscopic hematuria is the hallmark of Alport syndrome, occurring in almost all boys according to previous reports. We report the case of a 20-year-old man presented with proteinuria but no hematuria that was initially misdiagnosed with refractory nephrotic syndrome and was eventually diagnosed with Alport syndrome following kidney and skin biopsy. During the follow-up period, he experienced a rapid progression to end-stage renal disease. Timely diagnosis of Alport syndrome is important, because patients may benefit from early intervention and avoid suffering from unnecessary nephrotoxic drug use.

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Author Biographies

  • Chen Yin-Yin, Department of Nephrology, Second Xiangya Hospital, Renal Research Institute of Central South University, Central South University, Changsha, China
    Department of Nephrology, Second Xiangya Hospital, Renal Research Institute of Central South University, Central South University.PH,D;Doctor-in-charge
  • Peng You-Ming, Department of Nephrology, Second Xiangya Hospital, Renal Research Institute of Central South University, Central South University, Changsha, China
    Department of Nephrology, Second Xiangya Hospital, Renal Research Institute of Central South University, Central South University;Ph.D. supervisorProfessor
  • Liang Yu-Mei, Department of Nephrology, Hunan Provincial People’s Hospital, Hunan Normal University, Changsha, China
    Department of Nephrology, Hunan Provincial People’s Hospital, The first affiliated hospital of Hunan normal university;Professor 

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Published

2014-05-28

Issue

Section

CASE REPORT | Kidney Diseases

How to Cite

Delayed Diagnosis of Alport Syndrome Without Hematuria. (2014). Iranian Journal of Kidney Diseases, 8(3), 250-251. https://ijkd.org/index.php/ijkd/article/view/1218