Article
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome.
European journal of medical genetics - 1 Jan 2000
Atale Agnès, Bonneau-Amati Patrizia, Rötig Agnès, Fischer Alain, Perez-Martin Stéphanie, de Lonlay Pascale, Niaudet Patrick, De Parscau L, Mousson C, Thauvin-Robinet C, Munnich A, Huet F, Faivre L
Abstract excerpt
Out of a series of 30 French patients with Pearson syndrome, we report on two patients with an atypical presentation, which include growth deficiency, pancytopaenia, tubulopathy and absence of exocrine pancreas dysfunction. Patient 1, a 4-year-old boy with a past history of pancytopaenia and transient metabolic acidosis at 13 months of age, presented at 2(1/2) years of age with severe tubulopathy of de...
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