Overlapping Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy with Mutation in CFI in a Japanese Patient: A Case Report

被引：0

作者：

Osawa, Kosuke ^{[1
]}

Yamamoto, Shuto ^{[1
]}

Yamano, Yukiko ^{[1
]}

Kita, Ayako ^{[1
]}

Okamoto, Kota ^{[1
]}

Kato, Noritoshi ^{[2
]}

Tatematsu, Yoshitaka ^{[3
]}

Kojima, Fumiyoshi ^{[4
]}

Ohya, Masaki ^{[1
]}

Hara, Shigeo ^{[5
]}

Murata, Shin-ichi ^{[4
]}

Inoue, Norimitsu ^{[6
]}

Maruyama, Shoichi ^{[2
]}

Araki, Shin-ichi ^{[1
]}

机构：

[1] Wakayama Med Univ, Sch Med, Dept Nephrol, Wakayama, Japan

[2] Nagoya Univ, Grad Sch Med, Dept Nephrol, Nagoya, Japan

[3] Fujita Hlth Univ, Bantane Hosp, Dept Nephrol, Toyoake, Japan

[4] Wakayama Med Univ, Sch Med, Dept Human Pathol, Wakayama, Japan

[5] Kobe City Med Ctr Gen Hosp, Dept Pathol, Kobe, Japan

[6] Wakayama Med Univ, Sch Med, Dept Mol Genet, Wakayama, Japan

来源：

INTERNAL MEDICINE | 2024年 / 63卷 / 12期

关键词：

aHUS; TMA; C3; glomerulopathy; CFI; case report; PATHOGENESIS; GENETICS;

D O I：

10.2169/internalmedicine.2713-23

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A 34-year-old Japanese man presented with blurred vision, headache, nausea, anemia, thrombocytopenia, and severe renal dysfunction. Thrombotic microangiopathy was initially suspected to have been caused by malignant hypertension. Antihypertensive medications did not improve his thrombocytopenia or renal dysfunction, and other diseases causing thrombotic microangiopathy were ruled out. Therefore, the patient was diagnosed with atypical hemolytic uremic syndrome. A renal biopsy revealed an overlap of thrombotic microangiopathy and C3 glomerulopathy. Genetic testing revealed c.848A>G (p.Asp283Gly), a missense heterozygous variant in the gene encoding complement factor I. Overlapping atypical hemolytic uremic syndrome and C3 glomerulopathy with complement factor I mutation is very rare, especially in Japan.

引用

页码：1777 / 1782

页数：6

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