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ピルビン酸脱水素酵素複合体欠損症の女性新生児の解析
[Analysis of a female neonate with pyruvate dehydrogenase complex deficiency].
PMID: 30098254 DOI: 10.3760/cma.j.issn.1003-9406.2018.04.020.
抄録
目的:
筋力低下、脳磁気共鳴画像異常、血中乳酸値上昇を有する女性新生児の臨床的特徴と遺伝的基盤を解析する。
OBJECTIVE: To analyze the clinical features and genetic basis of a female neonate with muscle weakness, abnormal brain magnetic resonance imaging and elevated blood lactate.
方法:
患者は臨床検査と検査室検査を受けた。患者とその親族のために次世代シークエンシングを実施した。
METHODS: The patient was subjected to clinical and laboratory examination. Next generation sequencing was carried out for the patient and her relatives.
結果:
妊娠年齢にしては小さく，筋力低下，脳磁気共鳴画像異常，血中乳酸値の上昇，アシドーシスなどの臨床的特徴を有すると診断された．遺伝子検査により，病原性が知られていたde novo PDHA1変異c.1133G to A (p.R378H)が同定された．ピルビン酸脱水素酵素複合体欠損症（PDCDD）と診断され，ビタミンB1，コエンザイムQ10，L-カルニチンが処方され，ケト原性食が推奨された．4ヶ月7日後の経過観察では、血中乳酸は正常値まで低下していたが、筋力は低下したままであった。
RESULTS: The proband was diagnosed as small for gestational age, with clinical features including muscle weakness, abnormal brain magnetic resonance imaging, increased blood lactate, and acidosis. By genetic testing, a de novo PDHA1 mutation c.1133G to A (p.R378H) was identified, which was known to be pathogenic. The patient was diagnosed with pyruvate dehydrogenase complex deficiency disease (PDCDD), for which vitamin B1, coenzyme Q10, and L-carnitine were prescribed, and a ketogenic diet was recommended. Follow-up at 4-month-7-day found that her blood lactic acid was reduced to normal but her muscle tone was still low.
結論:
プロブランドはPDHA1ミスセンス変異によるPDCDDと診断された。NGSはこのような疾患の診断に強力なツールを提供しています。
CONCLUSION: The proband was diagnosed as PDCDD caused by a PDHA1 missense mutation. NGS has provided a powerful tool for the diagnosis of such diseases.