| Literature DB >> 32592137 |
Yoshinori Araki1, Azusa Kawaguchi1, Nana Sakakibara1,2, Yoshinobu Nagaoka1,3, Tomohiko Yamamura2, Tomoko Horinouchi2, China Nagano2, Naoya Morisada2, Kazumoto Iijima2, Kandai Nozu4.
Abstract
Alport syndrome (AS) is a progressive kidney disease. Male cases with X-linked AS (XLAS) are reported to develop end-stage kidney disease (ESKD) at the age of around 20-30 years. One risk factor for developing ESKD at a young age is a genotype of having truncating variants in the COL4A5 gene. However, to date, other such factors have remained unclear. Here, we describe a 15-year-old Japanese boy with XLAS who had a missense variant in the COL4A5 gene. He presented with gross hematuria, severe proteinuria, oliguria, systemic edema, body weight gain, and hypertension after pharyngitis. Blood examination showed kidney dysfunction, hypocomplementemia, and elevated antistreptolysin-O level. We diagnosed him with poststreptococcal acute glomerulonephritis (PSAGN) and he was stopped treatment by lisinopril, and received supportive treatment. However, he showed an unusual clinical course for PSAGN and, consequently, developed ESKD 15 months after the onset of PSAGN without recovery from the kidney dysfunction. This case showed that the onset of PSAGN can be a risk factor for AS patients to develop ESKD at a young age.Entities:
Keywords: AGN; COL4A5; PSAGN; Risk factor
Year: 2020 PMID: 32592137 PMCID: PMC7502103 DOI: 10.1007/s13730-020-00498-2
Source DB: PubMed Journal: CEN Case Rep ISSN: 2192-4449