An infant with severe combined immunodeficiency syndrome, an alpha-thalassemia trait and renal Fanconi syndrome.
We describe an infant with severe combined immunodeficiency syndrome and an alpha-thalassemia trait who developed a renal Fanconi syndrome after his first stem cell transplantation. This syndrome consists of a generalized failure of proximal tubular reabsorption, which leads to a large number of metabolic disturbances. The etiology varies from inherited causes, including an idiopathic form, to acquired causes such as intoxications, immunological disorders and hemoglobinopathies. In this case report we discuss possible explanations of the Fanconi syndrome in our patient.
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
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van de Moesdijk
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MH
van Weel-Sipman
D003241:Consanguinity; D004268:DNA-Binding Proteins / Q000235:genetics; D005198:Fanconi Syndrome / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects*; D006801:Humans; D007223:Infant; D008297:Male; D009426:Netherlands; D009687:Nuclear Proteins; D017354:Point Mutation; D016511:Severe Combined Immunodeficiency / Q000150:complications* / Q000235:genetics / Q000628:therapy*; D014421:Turkey / Q000208:ethnology; D017085:alpha-Thalassemia / Q000150:complications* / Q000235:genetics / Q000628:therapy*
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; C064655:V(D)J recombination activating protein 2