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<p>Onset of acute hepatic porphyria (AHP) in children/adolescents is very rare. The diagnosis is complex and challenging, most importantly due symptoms overlapping with those of other more common diseases. Treatment with porphyrinogenic drugs increases the risk of acute life-threatening attacks with potentially irreversible neurological sequelae. Herein, we report on a&#xa0;female adolescent with AHP presenting with a&#xa0;plethora of clinical symptoms, including hyponatremia, seizure, rhabdomyolysis, arterial hypertension and neuropsychiatric symptoms. Paediatricians should therefore be aware of AHP and consider it in their differential diagnosis.</p>

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A female adolescent with hyponatremia, seizure, rhabdomyolysis, arterial hypertension and neuropsychiatric symptoms

  • 期刊论文

  • 发表日期：

    2025年8月15日

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  • Silvia Welcker,
  • Felix Quittek,
  • Thomas Stauch,
  • Frauke Riedel,
  • Albrecht Hellenschmidt,
  • Amelie Hufnagel-Schmude,
  • Sascha Meyer

摘要

Onset of acute hepatic porphyria (AHP) in children/adolescents is very rare. The diagnosis is complex and challenging, most importantly due symptoms overlapping with those of other more common diseases. Treatment with porphyrinogenic drugs increases the risk of acute life-threatening attacks with potentially irreversible neurological sequelae. Herein, we report on a female adolescent with AHP presenting with a plethora of clinical symptoms, including hyponatremia, seizure, rhabdomyolysis, arterial hypertension and neuropsychiatric symptoms. Paediatricians should therefore be aware of AHP and consider it in their differential diagnosis.