RESUMEN
INTRODUCTION: Cryopyrin associated periodic syndrome is a rare auto inflammatory disease including three clinical entities with a common genetic cause. Among these three entities, Muckle-Wells syndrome is described as an intermediate phenotype associated with a progressive sensorineural hearing loss and AA amyloidosis. The present case reports a renal AA amyloidosis associated with an IgA nephropathy, revealing a Muckle-Wells syndrome. OBSERVATION: The case is reported of a 38-years-old patient who presented a renal failure revealed concomitantly with a macroscopic hematuria exploration. Urological investigations were performed with negative results. The patient had no particular background except urticarial rashes, unlabeled inflammatory rheumatism and a grandmother's amyloidosis. Renal biopsy revealed glomerular, vascular and interstitial AA amyloidosis associated to an IgA nephropathy. This amyloidosis was known to be a part of Muckle-Wells syndrome, and a NLRP3 gene study confirmed the diagnosis. CONCLUSION: Cryopyrin associated periodic syndrome is a rare disease and the clinical diagnosis suspicion need genetic confirmation. AA amyloidosis is known to happen in Muckle-Wells syndrome. Other occasional renal impairments are described in this syndrome whereas the IgA nephropathy association remains poorly characterized.
Asunto(s)
Amiloidosis/etiología , Síndromes Periódicos Asociados a Criopirina/diagnóstico , Glomerulonefritis por IGA/etiología , Fallo Renal Crónico/etiología , Adulto , Anticuerpos Monoclonales/uso terapéutico , Anticuerpos Monoclonales Humanizados , Autoanticuerpos/análisis , Autoanticuerpos/inmunología , Síndromes Periódicos Asociados a Criopirina/complicaciones , Síndromes Periódicos Asociados a Criopirina/genética , Síndromes Periódicos Asociados a Criopirina/patología , Hematuria/etiología , Humanos , Interleucina-1/antagonistas & inhibidores , Masculino , Proteína con Dominio Pirina 3 de la Familia NLR/deficiencia , Proteína con Dominio Pirina 3 de la Familia NLR/genética , Enfermedades Reumáticas/etiología , Proteína Amiloide A Sérica/inmunología , Urticaria/etiologíaAsunto(s)
Epidídimo/patología , Neoplasias de los Genitales Masculinos/patología , Leiomioma/patología , Biomarcadores de Tumor/análisis , Epidídimo/cirugía , Neoplasias de los Genitales Masculinos/química , Neoplasias de los Genitales Masculinos/cirugía , Humanos , Leiomioma/química , Leiomioma/cirugía , Masculino , Persona de Mediana Edad , OrquiectomíaRESUMEN
INTRODUCTION: Composite pheochromocytoma is a rare tumor of the adrenal medulla composed of pheochromocytoma and neuroblastic tumor. We report the case of a composite pheochromocytoma detected in a patient with neurofibromatosis type 1. CASE REPORT: A 61-year-old male patient presented occasional sweats with palpitation and moderate high blood pressure. Urinary catecholamine level was increased. CT scan showed a heterogeneous tumor limited to the adrenal gland. Histologically, the tumor showed two components: pheochromocytoma and ganglioneuroma and was diagnosed as a composite pheochromocytoma. This tumor is particularly associated with neurofibromatosis type 1, the NF1 germline gene mutation may be involved in its physiopathology. CONCLUSION: Composite pheochromocytoma is a rare tumor whose pheochromocytoma component is suspected clinically but the final diagnosis is assessed by pathological examination. Prognosis is still difficult to establish due to the rarity of these tumors.
