title: Renal dysplasia/hypoplasia, Williams Syndrome phenotype and non-Hodgkin lymphoma in the same patient: only a coincidence?
abstract: Congenital renal anomalies, Williams Syndrome and non-Hodgkin lymphoma all occur separately at low incidence, so their simultaneous presence in the same patient is exceptional. We present a young patient manifesting all three conditions. This child is a boy with a Williams Syndrome phenotype who was diagnosed with severe chronic kidney disease secondary to bilateral renal dysplasia/hypoplasia. Due to his small size, he received treatment with growth hormone. He progressed to end stage kidney disease and, after 8 months, a renal transplant was performed. A number of suspicious abdominal adenopathies were removed during the surgery and, thereafter, immunosupressive treatment with prednisone, azathioprine and cyclosporine was initiated. Examination of the biopsy tissue confirmed the presence of a T-cell lymphoblastic lymphoma. Appropriate chemotherapy was given, and the immunosupressive regimen was eventually reduced to prednisone alone. Now, 8 years since the initial diagnosis of T-cell lymphoblastic lymphoma and 6 years after the completion of the chemotherapy, the patient is still in complete remission with a functional donor kidney. We discuss some possible explanations of this association. Chemotherapy has not appeared to have affected the viability of the grafted kidney and, in fact, it may even have induced immunotolerance.
authors.affiliation: Paediatric Oncology and Haematology Service, University Clinical Hospital, Santiago de Compostela, Spain. adelaurisarri@yahoo.es
authors.forename: Adela
authors.initials: A
authors.lastname: Urisarri-Ruiz de Cortázar
authors.forename: Marta Gil
authors.initials: MG
authors.lastname: Calvo
authors.forename: Manuel Vázquez
authors.initials: MV
authors.lastname: Donsión
authors.forename: Gema Ariceta
authors.initials: GA
authors.lastname: Iraola
authors.forename: Jose Miguel Couselo
authors.initials: JM
authors.lastname: Sánchez
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D013006:Growth Hormone / Q000627:therapeutic use; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000473:pathology; D007668:Kidney / Q000002:abnormalities*; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000473:pathology / Q000601:surgery; D016030:Kidney Transplantation; D008228:Lymphoma, Non-Hodgkin / Q000150:complications* / Q000473:pathology / Q000628:therapy; D008297:Male; D011994:Recombinant Proteins / Q000627:therapeutic use; D016896:Treatment Outcome; D014564:Urogenital Abnormalities / Q000150:complications* / Q000473:pathology; D018980:Williams Syndrome / Q000150:complications* / Q000473:pathology
chemical_list: D011994:Recombinant Proteins; D013006:Growth Hormone