Centre de Référence des Maladies Rénales Rares, Filières de santé maladies rares ORKID et ERK-Net, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.
Service de Néonatologie, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France; Centre International de Recherche en Infectiologie. Unité INSERMI U1111 CNRS UMR5308 ENS de Lyon, Lyon, France.
Arch Pediatr. 2021 May;28(4):338-341. doi: 10.1016/j.arcped.2021.03.002. Epub 2021 Apr 12.
The main clinical features of tyrosinemia type 1 usually appear in the first months of life, including fever, diarrhea, vomiting, liver involvement, growth failure, and renal proximal tubulopathy with subsequent hypophosphatemic rickets. An early diagnosis is crucial in order to provide specific management and to prevent complications. Here, we report on two cases referred primarily to pediatric nephrologists for the diagnosis of "neonatal tubulopathy" and management of "X-linked hypophosphatemia (XLH)," respectively. Our aim is to emphasize that (1) even a mixed tubulopathy can reveal tyrosinemia, and (2) tyrosinemia is a classic differential diagnosis of XLH that should not be forgotten, especially in the era of the anti-FGF23 burosumab.
I型酪氨酸血症的主要临床特征通常在出生后的头几个月出现，包括发热、腹泻、呕吐、肝脏受累、生长发育不良以及随后出现的低磷性佝偻病伴肾近曲小管病变。早期诊断至关重要，以便提供特定的治疗并预防并发症。在这里，我们报告了两例分别主要由儿科肾脏病医生诊断为“新生儿肾小管病”和“X 连锁低磷血症（XLH）”的病例。我们的目的是强调：（1）即使是混合性肾小管病也可能提示酪氨酸血症；（2）酪氨酸血症是 XLH 的经典鉴别诊断，不应被遗忘，尤其是在抗 FGF23 布罗索尤单抗的时代。
