RESUMEN
A woman aged 22 years presented with a 3-year history of jerks when brushing her teeth and a tremor when carrying drinks. Examination revealed a bilateral jerky tremor, stimulus-sensitive myoclonus, and difficulty with tandem gait. Thyroid and liver function test results were normal, but she had rapidly progressive renal failure. Serum copper, ceruloplasmin, and manganese levels were normal, but her urinary copper level was elevated on 2 occasions. Pathological findings on organ biopsy prompted genetic testing to confirm the diagnosis. The differential diagnosis, tissue biopsy findings, and final genetic diagnosis are discussed.
Asunto(s)
Cobre/orina , Mioclonía/complicaciones , Insuficiencia Renal Crónica/complicaciones , Temblor/complicaciones , Diagnóstico Diferencial , Femenino , Humanos , Proteínas de Membrana de los Lisosomas/genética , Mutación/genética , Mioclonía/diagnóstico por imagen , Mioclonía/genética , Mioclonía/orina , Receptores Depuradores/genética , Insuficiencia Renal Crónica/genética , Insuficiencia Renal Crónica/orina , Temblor/genética , Adulto JovenRESUMEN
BACKGROUND: Clinical and biochemical follow up after surgery for phaeochromocytoma is essential with long term studies demonstrating recurrence frequencies between 6% and 23%. AIM: To examine the characteristics and frequency of tumour recurrence in a regional endocrine referral centre, in patients with surgical resection of phaeochromocytoma (P) and abdominal paraganglioma (AP). METHODS: We identified a cohort of 52 consecutive patients who attended our Regional Endocrinology & Diabetes Centre and retrospectively reviewed their clinical, biochemical and radiological data (between 2002 and 2013). After confirmation of early post-operative remission by negative biochemical testing, tumour recurrence was defined by demonstration of catecholamine excess with confirmatory imaging. RESULTS: Phaeochromocytoma was confirmed histologically in all cases (43:P, 9:AP, mean-age:53 years). Open adrenalectomy was performed in 20 cases and laparoscopically in 32. Hereditary phaeochromocytoma was confirmed by genetic analysis in 12 (23%) patients. Median follow up time from initial surgery was 47 months, (range: 12 - 296 months), 49 patients had no evidence of tumour recurrence at latest follow-up. Three patients (6%) demonstrated tumour development, one in a patient with VHL which occurred in a contralateral adrenal gland, one sporadic case had local recurrence, and an adrenal tumour occurred in a patient with a SDHB gene mutation who had a previous bladder tumour. After initial surgery, the tumours occurred at 8.6, 12.0 and 17.7 years respectively. CONCLUSION: In this study tumour development occurred in 6% of patients. Although tumour rates were low, careful and sustained clinical and biochemical follow up is advocated, as new tumour development or recurrence may occur long after the initial surgery is performed.
Asunto(s)
Neoplasias Abdominales/cirugía , Neoplasias de las Glándulas Suprarrenales/cirugía , Recurrencia Local de Neoplasia/diagnóstico , Paraganglioma Extraadrenal/cirugía , Feocromocitoma/cirugía , Neoplasias de las Glándulas Suprarrenales/genética , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Feocromocitoma/genética , Adulto JovenRESUMEN
BK virus nephropathy (BKVN) is a well-recognized complication of renal transplantation. Several cases of native kidney BKVN following other solid organ or bone marrow transplants have been reported. We describe a patient with chronic lymphocytic leukaemia who presented with deteriorating renal function with no history of solid organ or bone marrow transplantation. Renal biopsy demonstrated tubular injury characteristic of viral infection, confirmed as BK virus by immunohistochemistry and elevated serum BK viral titres. Treatment with leflunomide reduced serum viral titres and stabilized renal function. This is the first biopsy-proven case of native kidney BKVN in a patient with no previous transplantation history.
Asunto(s)
Virus BK/aislamiento & purificación , Enfermedades Renales/etiología , Leucemia Linfocítica Crónica de Células B/complicaciones , Infecciones por Polyomavirus/diagnóstico , Infecciones Tumorales por Virus/diagnóstico , Anciano , Virus BK/genética , ADN Viral/genética , Humanos , Inmunosupresores/uso terapéutico , Isoxazoles/uso terapéutico , Enfermedades Renales/tratamiento farmacológico , Enfermedades Renales/patología , Leflunamida , Masculino , Reacción en Cadena de la Polimerasa , Infecciones por Polyomavirus/tratamiento farmacológico , Infecciones por Polyomavirus/etiología , Pronóstico , Infecciones Tumorales por Virus/tratamiento farmacológico , Infecciones Tumorales por Virus/etiologíaRESUMEN
AIMS: Overlap syndromes constitute a significant proportion of autoimmune liver disease. Our aim was to describe our cohort and evaluate practical methods of correctly diagnosing autoimmune hepatitis/primary sclerosing cholangitis overlap syndrome as early as possible clinically. METHODS: 118 autoimmune hepatitis patients were screened for cholestatic liver function tests. 24 patients with cholestatic liver function tests were investigated for possible primary sclerosing cholangitis by clinicopathological review and magnetic resonance cholangiography. Retrospectively, potential predictors of autoimmune hepatitis/primary sclerosing cholangitis overlap syndrome were compared with a control group. RESULTS: Overlap syndrome was diagnosed in twelve (50%) of 24 autoimmune hepatitis patients with recent cholestasis. The cholestatic group had a lower AST (p=0.012) and International Autoimmune Hepatitis Group (IAHG) score (p=0.102), and higher IgM (p=0.002) at disease presentation. More patients in the cholestatic group developed ulcerative colitis (p=0.138). CONCLUSIONS: Identifying AIH / PSC overlap syndrome at diagnosis is often difficult. Certain clinical and biochemical features should alert the clinician. All patients with AIH, and biochemical cholestasis should be investigated with MRC.
