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Case Report
Nephrology (Genitourinary)
De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
Kyoung Hee Han, Jong Eun Park, Chang-Seok Ki
Clin Exp Pediatr. 2019;62(5):193-197.   Published online November 26, 2018
Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). ATS is characterized by persistent microscopic hematuria that starts during infancy, eventually leading to either progressive nephritis or end-stage renal disease. There are 3 known genetic forms of ATS, namely X-linked ATS, autosomal recessive ATS, and...
A Case of Alport Syndrome Associated with Diffuse Esophageal Leiomyomatosis
Jin Young Jung, Cheol-Min Kim, Yean Jung Lim, Ja Hyung Kim, Chong Woo You, Bo-Hwa Choi, Soo-Joung Hong, Young Seo Park
Clin Exp Pediatr. 2002;45(9):1160-1164.   Published online September 15, 2002
University of Ulsan, Seoul, Korea We report a case of Alport syndrome associated with esophageal leiomyomatosis, presenting as recurrent pneumonia. A 5-year old girl who had a history of cataract visited the out patient clinic with a complaint of recurrent wheezing and respiratory difficulty which had started five months previously. Chest magnetic resonance image(MRI) and esophagography, checked on the suspicion of...
Two Cases of Alport Syndrome Developed in Sister
Clin Exp Pediatr. 1992;35(9):1314-1318.   Published online September 15, 1992
The moderate sensory neural hearing loss and decreased visual acuity were accompanied in a 15 year old girl with chronic renal failure, and so we suspected Alport syndrome. In Family study, her younger sister of 12 years old had shown persistent hematuria from 2 years ago and mild hearing loss. HTe ultrasound-guided percutaneous renal biopsy was performed in younger sister...