Author:
Pang Lu,Chen Jian,Yu Haiyan,Huang Haiming,Jin Bo,Wang Xin,Li Haixia
Abstract
In this research, we described a very rare case of thrombotic microangiopathy induced by remethylation disorders. A 16-year-old boy presented to the emergency department with 5 months of weakness and fatigue. He was diagnosed with thrombotic microangiopathy based on clinical manifestation and laboratory information, which showed microangiopathic hemolytic anemia, renal impairment, and thrombocytopenia. After a complex diagnostic workup, the metabolite screening parameters and sequencing results guided us toward the diagnosis of remethylation disorders. The patient was diagnosed with thrombotic microangiopathy induced by remethylation disorders (cblC).
Reference12 articles.
1. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency;Huemer;J Inherit Metab Dis.,2017
2. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry;Huemer;J Inherit Metab Dis.,2019
3. Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report;Chen;BMC Med Genet.,2020
4. Hemolytic uremic syndrome;Cody;Pediatr Clin North Am.,2019
5. An update on pathogenesis and diagnosis of thrombotic thrombocytopenic purpura;Joly;Expert Rev Hematol.,2019
Cited by
1 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献