Arch Pediatr 2021 May 12;28(4):338-341. Epub 2021 Apr 12.
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; Faculté de Médecine Lyon Est, Université Claude Bernard Lyon 1, Lyon, France; INSERM, UMR 1033, Faculté de Medecine Lyon Est, Université Claude Bernard Lyon 1, Lyon, France. Electronic address:
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. Read More