骨格系障害
HPPでは、年齢を問わず、生命にかかわるさまざまな骨格系の症状がみられます1-7
呼吸器障害
HPPの呼吸器障害は重篤な合併症です。乳児型HPPの死因で最も多いのは呼吸不全です1,2,8,9
神経系障害
HPP患者さんにおいて、神経系障害は重篤な合併症のひとつです。新生児期にみられるビタミンB6依存性けいれん発作は、致死的な予後をたどり、症例研究では、新生児けいれん発作を起こしたHPPの患児は生後18ヵ月以内に死亡することが示唆されています1,2,4,10
腎障害
HPP患者さんでは、重度の腎障害を伴う腎石灰化などの重大な腎臓の症状が認められることがあります1,3,7,11,12
筋肉/関節の症状
運動能力に関連する筋肉や関節の症状の発現は、患者さんの体を衰弱させ、日常生活に永続的な影響を及ぼします1,4,5,9,13-15
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