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Published on: September 18, 2013
Tyrosinemia type 1 in pediatric nephrology: Not always straightforward
Sissa Brito Dos Santos1, Aurélia Bertholet-Thomas1, Marine Butin2
1Centre 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.
Abstract:
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.
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