翻訳と辞書 Words near each other ・ Hereditarnia ・ Hereditary angioedema ・ Hereditary benign intraepithelial dyskeratosis ・ Hereditary breast–ovarian cancer syndrome ・ Hereditary C*-subalgebra ・ Hereditary CNS demyelinating disease ・ Hereditary Commander ・ Hereditary coproporphyria ・ Hereditary cystatin C amyloid angiopathy ・ Hereditary diffuse gastric cancer ・ Hereditary diffuse leukoencephalopathy with spheroids ・ Hereditary Disease Foundation ・ Hereditary education policy ・ Hereditary elliptocytosis ・ Hereditary equine regional dermal asthenia ・ Hereditary folate malabsorption ・ Hereditary fructose intolerance ・ Hereditary gelsolin amyloidosis ・ Hereditary gingival fibromatosis ・ Hereditary Health Court ・ Hereditary hemorrhagic telangiectasia ・ Hereditary hyperbilirubinemia ・ Hereditary inclusion body myopathy ・ Hereditary intestinal polyposis ・ Hereditary Kingdom of Norway ・ Hereditary leiomyomatosis and renal cell cancer syndrome ・ Hereditary leiomyomatosis and renal cell carcinoma ・ Hereditary monarchy ・ Hereditary motor and sensory neuropathy ・ Hereditary motor and sensory neuropathy with proximal dominance Dictionary Lists mini英和辞書 mini和英辞書 Webster 1913 Latin-English FOLDOC Wikipedia English ウィキペディア

翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Hereditary folate malabsorption ： ウィキペディア英語版 Hereditary folate malabsorption Hereditary folate malabsorption (HFM - OMIM #229050) is a rare autosomal recessive disorder caused by caused by loss-of-function mutations in the proton-coupled folate transporter (PCFT) gene, resulting in systemic folate deficiency and impaired delivery of folate to the brain. ==Clinical presentation== Affected infants present within a few months after birth with failure to thrive and severe folate deficiency manifested as macrocytic anemia and developmental delays. There can be (i) pancytopenia, (ii) diarrhea and/or mucositis and/or (iii) immune deficiency due to T-cell dysfunction and hypoimmunoglobulinemia resulting in pneumonia usually due to Pneumocystis jirovecii. Recently, several infants with the immune deficiency syndrome were described. Untreated, or with inadequate treatment, there are progressive systemic and neurological signs with a spectrum of manifestations including seizures that are often intractable. Females with HFM are fertile and, if folate sufficient during pregnancy, have normal offspring. Subjects that carry one mutated PCFT allele are normal. The genomic and clinical features of HFM were recently reviewed.〔〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Hereditary folate malabsorption」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.