Al-Harazi Arwa A, Al-Eryani Bilguis M, Al-Sharafi Butheinah A
Department of Pediatrics, School of Medicine and Health Sciences, Sana'a University, PO Box 700, Sana'a, Yemen.
Department of Medicine, School of Medicine and Health Sciences, Sana'a University, Sana'a, Yemen.
BMC Res Notes. 2017 Sep 12;10(1):476. doi: 10.1186/s13104-017-2803-6.
Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis, erythrodontia and reddish-colored urine are often present, as well as hemolytic anemia accompanied by hepatosplenomegaly.
Here, we present a case of a 5-year-old male child of Middle Eastern origin who had been diagnosed as having alpha thalassemia and was undergoing chronic blood transfusions. He later presented with hypopigmented skin lesions and atrophy post-photosensitivity, persistent red-colored urine and hepatosplenomegaly. Laboratory investigations showed a high level of porphyrin metabolites in his plasma and erythrocytes. As a result, he was diagnosed as having Congenital erythropoietic porphyria.
Here, we diagnose a case of congenital erythropoietic porphyria which was initially missed, although the clinical features were clear (red-colored urine, hepatosplenomegaly and hemolytic anemia were present since birth, and skin manifestations appeared at the age of 22 months after being exposed to sunlight). After a DNA test was performed, the patient was initially diagnosed as having alpha thalassemia. We identified two causes of hemolytic anemia (congenital erythropoietic porphyria and alpha thalassemia) in this patient. The diagnosis of congenital erythropoietic porphyria was missed up until the child turned 5 years old. To our knowledge, this is the first case of hemolytic anemia to be reported with a diagnosis of both congenital erythropoietic porphyria and alpha thalassemia.
先天性红细胞生成性卟啉病是一种罕见的常染色体隐性疾病，会影响血红素 - 卟啉合成。该疾病是由于尿卟啉原III同合酶的基因缺陷所致。这种缺陷导致所有组织中大量尿卟啉I蓄积，从而引发从轻度到重度的皮肤、软骨和骨骼慢性损伤的临床表现。常有多毛症、红牙和尿液呈红色，以及伴有肝脾肿大的溶血性贫血。
在此，我们报告一例中东裔5岁男童病例，该患儿曾被诊断为α地中海贫血并接受慢性输血治疗。他后来出现色素减退性皮肤病变和光敏感后萎缩、持续性红色尿液以及肝脾肿大。实验室检查显示其血浆和红细胞中卟啉代谢物水平很高。因此，他被诊断为先天性红细胞生成性卟啉病。
在此，我们诊断了一例先天性红细胞生成性卟啉病，尽管临床特征明显（自出生就存在红色尿液、肝脾肿大和溶血性贫血，22个月大接触阳光后出现皮肤表现），但最初仍被漏诊。进行DNA检测后，该患者最初被诊断为α地中海贫血。我们在该患者中确定了溶血性贫血的两个病因（先天性红细胞生成性卟啉病和α地中海贫血）。直到患儿5岁时先天性红细胞生成性卟啉病的诊断才被发现。据我们所知，这是首例同时诊断为先天性红细胞生成性卟啉病和α地中海贫血的溶血性贫血病例报告。
