Asymptomatic aminotransferase elevation has a broad differential in the pediatric population. We report an 11-year old male with a history of urine discoloration found to have persistently elevated aminotransferases. Biochemical evaluation was notable for elevated uroporphyrin, consistent with porphyria cutanea tarda (PCT). Genetic testing revealed biallelic pathogenic variants in HFE and a pathogenic variant in UROD, consistent with a diagnosis of hereditary hemochromatosis (HHC) and PCT, respectively. Dual diagnosis likely explains the pediatric onset of these typically adult-onset conditions.

中文翻译：

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成人发病的早期表现：遗传性血色病和皮肤卟啉病的双重诊断。

无症状转氨酶升高在儿科人群中有很大差异。我们报告了一名11岁的男性，有尿液变色的历史，发现其氨基转移酶持续升高。生化评估表明尿卟啉升高，与皮肤卟啉卟啉菌（PCT）一致。遗传学测试显示，HFE中的双等位基因致病变异和UROD中的致病变异，分别与遗传性血色素沉着病（HHC）和PCT的诊断一致。双重诊断可能解释了这些典型的成人发病情况的儿科发病。