[Classical interstitial pneumonitis and mixed cryoglobulinemia in a male with Turner phenotype. Report of a case and review of the literature].
We report a male patient, chromosomal complement 44 XY with Turner's phenotype, who has multiple skeletal, genitourinary and mild cardiac abnormalities, without hypogonadism. This patient developed a diffuse infiltrative pulmonary disease which result in pulmonary fibrosis, respiratory insufficiency and cardiac failure. He has also mixed cryoglobulinemia (Type III) with antigammaglobulin antibodies. The relationship among these problems and his phenotype is discussed. Apparently there is only a coincidental association.
D000328:Adult; D001796:Blood Protein Disorders / Q000175:diagnosis* / Q000276:immunology; D003450:Cryoglobulins / Q000032:analysis; D003937:Diagnosis, Differential; D004562:Electrocardiography; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000276:immunology; D010641:Phenotype; D011658:Pulmonary Fibrosis / Q000175:diagnosis* / Q000276:immunology; D012129:Respiratory Function Tests
D003450:Cryoglobulins
Neumonitis intersticial clásica y crioglobulinemia mixta en un varón con fenotipo Turner. Reporte de 1 caso y revisión de la literatura.