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Paper Information

Journal:   IRANIAN JOURNAL OF KIDNEY DISEASES (IJKD)   MAY 2014 , Volume 8 , Number 3; Page(s) 250 To 251.
 
Paper: 

DELAYED DIAGNOSIS OF ALPORT SYNDROME WITHOUT HEMATURIA (CASE REPORT)

 
 
Author(s):  YIN YIN CHEN, YOU MING PENG*, YU MEI LIANG
 
* DEPARTMENT OF NEPHROLOGY, SECOND XIANGYA HOSPITAL, RENAL RESEARCH INSTITUTE OF CENTRAL SOUTH UNIVERSITY, CENTRAL SOUTH UNIVERSITY, CHANGSHA, CHINA
 
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 followup 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.

 
Keyword(s): ALPORT SYNDROME, KIDNEY FAILURE, HEMATURIA
 
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