Adenosine Deaminase Deficient Severe Combined Immunodeficiency Presenting as Atypical Haemolytic Uraemic Syndrome
| Autor: | Nuria Martinez-Alier, E. Graham Davies, Joanne Smart, Austen Worth, Rosie Hague, Stuart Adams, Olga Nikolajeva, H. Bobby Gaspar |
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| Rok vydání: | 2015 |
| Předmět: |
Male
medicine.medical_specialty Genotype Adenosine Deaminase Genetic enhancement Lymphocyte Immunology Diagnosis Differential chemistry.chemical_compound Fatal Outcome Adenosine deaminase Deoxyadenosine Agammaglobulinemia immune system diseases Internal medicine Deoxyadenosine triphosphate Atypical hemolytic uremic syndrome medicine Humans Immunology and Allergy Child Atypical Hemolytic Uremic Syndrome Severe combined immunodeficiency biology Infant nutritional and metabolic diseases hemic and immune systems medicine.disease Adenosine deaminase deficiency enzymes and coenzymes (carbohydrates) Endocrinology medicine.anatomical_structure chemistry Mutation biology.protein Female Severe Combined Immunodeficiency |
| Zdroj: | Journal of Clinical Immunology. 35:366-372 |
| ISSN: | 1573-2592 0271-9142 |
| DOI: | 10.1007/s10875-015-0158-0 |
| Popis: | Adenosine deaminase (ADA) deficiency is a systemic disorder of purine metabolism. Deficiency of the purine salvage enzyme ADA leads to the build-up of the toxic metabolites, deoxyadenosine triphosphate and deoxyadenosine. ADA is ubiquitously expressed in all tissues of the body but most profoundly affects lymphocyte development and function leading to severe combined immunodeficiency (SCID). Unlike most other forms of SCID, ADA deficiency also results in non-immunologic manifestations. Associations between ADA deficiency and sensorineural hearing loss, behavioural abnormalities, non-infectious pulmonary disease and skeletal dysplasia are all recognised, and affect the long term outcome for these patients. Identification of new non-immunological manifestations and clinical presentations of ADA deficiency is essential to allow early optimisation of supportive care.Here we report four patients with ADA deficiency whose presenting feature was haemolytic uremic syndrome (HUS). 3 of 4 patients were diagnosed with ADA deficiency only after developing HUS, and one diagnosis was made post mortem, after a sibling was diagnosed with SCID. Shiga-toxigenic organisms were not isolated from any of the patients. 2 patients made a good recovery from their HUS with supportive treatment and initiation of PEG-ADA. Both remain well on enzyme replacement with mild or no residual renal impairment.Clinicians should be aware of this previously unreported non-immunologic manifestation of ADA deficiency. |
| Databáze: | OpenAIRE |
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