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Congenital erythropoietic porphyria (Gunther disease): a case report

机译:先天性促红细胞生成斑岩(枪疾病):案例报告

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Congenital erythropoietic porphyria (CEP or Gunther disease) is a very rare subtype of porphyria with a prevalence of 0.9 per 1?000?000. A 13-year-old female patient came to our hospital complaining of a severe cutaneous ulceration and scarring. The symptoms began in her first year of life as urine discoloration and skin blistering in sun-exposed areas. The family had been trapped in a high-risk conflict zone in Syria for many years, which precipitated the aggravation of symptoms. Based on clinical examination and laboratory tests, we diagnosed the patient with CEP and treated her with vitamin D supplementation alongside chronic blood transfusions, strict photoprotection and psychotherapy. After 7 months, there were no longer active ulcers or novel complications. Psychotherapy and patient education were important for her psychological development at this age. This treatment limited the deterioration of the symptoms and made the patient more committed to the periodic examinations.
机译:先天性促红细胞生成斑岩(CEP或Gunther疾病)是卟啉的非常罕见的亚型,患病率<0.9每1000Ω000。一名13岁的女病人来到我们的医院抱怨严重的皮肤溃疡和疤痕。症状始于她的第一年的生命中,因为尿液曝光地区的尿液变色和皮肤起泡。多年来,该家庭被困在叙利亚的高风险冲突区域,这促成了症状的加重。根据临床检查和实验室测试,我们用CEP诊断患者,并用维生素D补充患者,伴随着慢性输血,严格的光保护和心理治疗。 7个月后,不再有活跃的溃疡或新的并发症。心理治疗和患者教育对这个年龄段的心理发展很重要。这种治疗限制了症状的恶化,并使患者更致力于定期检查。

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