<i>PAX2</i> 遺伝子変異を有し,無熱性けいれんを合併した腎コロボーマ症候群の1 例  [in Japanese] A case of a patient with afebrile convulsions diagnosed as having renal coloboma syndrome with <i>PAX2</i> gene mutation  [in Japanese]

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Abstract

要旨 腎コロボーマ症候群は<i>PAX2</i> 遺伝子の異常により発症する疾患で,視神経乳頭と腎の発生異常を認める。今回我々は無熱性けいれんを主訴に受診し<i>PAX2</i> 遺伝子変異を有する腎コロボーマ症候群と診断した11 歳男児例を経験した。症例は新生児期より先天性眼振・右外斜視・視神経コロボーマとして眼科で経過観察され,家族歴に腎疾患(検尿異常,腎機能障害)を認めた。11 歳に学校検尿で初めて蛋白尿を指摘された。睡眠中に呼吸抑制を伴う無熱性の全身硬直性けいれんを認め,当院に救急搬送された。受診時に尿潜血1+蛋白2+と腎機能障害を認めた。超音波検査で腎実質のエコー輝度の上昇を認め,腎病理検査で巣状糸球体硬化症の所見がみられた。その後無熱性けいれんを繰り返し脳波異常もみられたため局在関連てんかんと診断し,抗てんかん薬が投与された。<i>PAX2</i> 遺伝子解析ではエクソン2 にc.58_64dup のヘテロ接合体変異を認めた。その後も腎機能障害は徐々に進行しており今後も慎重な経過観察が必要である。

Renal coloboma syndrome is a disease caused by mutations in the <i>PAX2</i> gene, and is characterized by optic nerve dysplasia and renal malformations. We experienced treating an 11-year-old male who was diagnosed as having renal coloboma syndrome, with afebrile convulsions as the chief complaint. He exhibited proteinuria in his urinalysis that year for the first time, and a family history of renal disease (abnormal urinalysis findings, renal failure) was noted. Following afebrile tonic convulsion with respiratory depression during sleep, the patient was transported by ambulance to our hospital. We detected hematuria, proteinuria, and mild renal dysfunction. In addition to an increase in the echogenicity of the renal parenchyma detected by ultrasonography, focal glomerulosclerosis was observed by renal histopathological analysis. We also detected congenital nystagmus, right divergent strabismus, and optic disc coloboma. In the second episode of his afebrile convulsions, EEG showed abnormal findings. On the basis of these abnormal findings, he was diagnosed as having localization-related epilepsy. For which he was administered an anticonvulsant agent. We found a new mutation (c.58_64dup) by <i>PAX2</i> gene analysis. Over 4 years, his renal dysfunction progressed gradually. A careful follow-up of future progress is needed for this patient.

Journal

  • Nihon Shoni Jinzobyo Gakkai Zasshi

    Nihon Shoni Jinzobyo Gakkai Zasshi 28(2), 158-163, 2015

    The Japanese Society for Pediatric Nephrology

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