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Updated: Feb 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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臨床的負担,遺伝的異質性,および第2型原発性高酸素症の診断上の影響

Seema Hashmi1, Sabeeta Khatri2, Habib Qaiser2

  • 1Department of Pediatric Nephrology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan. seemahashmi2001@gmail.com.

Pediatric nephrology (Berlin, Germany)
|February 17, 2026
PubMed
まとめ

パキスタン人の子供における2型原発性高酸素症 (PH2) は,診断時に高度な腎疾患の高い負担を示しています. 様々なGRHPR遺伝子変異が特定され,男性の性別と高クレアチニンが疾患の進行を予測しました.

キーワード:
慢性腎臓病 慢性腎臓病とはプライマリハイパーオキシアルウリア2型石頭病は石頭病である.

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