RESUMEN
Alkaptonuria is a rare autosomal-recessive disorder that produces accumulation of homogentisic acid in body fluids. The accumulation in collagen tissues, mainly in the joint cartilage, produces ochronotic arthropathy. We report two clinical cases of one brother and sister with alkaptonuria and ochronotic arthropathy diagnosed in old age. In the first case, the patient is diagnosed by musculoskeletal involvement with long-term low back pain with other associated manifestations that made this pathology suspected. In the second case, the patient comes due to osteoporosis and other associated fractures and with the family history and the rest of the clinic, the appropriate complementary tests were performed and the diagnosis is established. It is unknown if there is consanguinity in these patients between parents or ancestors. It is an infrequent pathology that is often diagnosed intraoperatively. Despite the poor efficacy of medical treatment, it would be advisable to make an early diagnosis to avoid accumulation of the pigment and accelerated joint destruction and deposition in other locations. Owing to its prevalence, it is difficult to find a significant number of patients to search for new treatments that are intended to correct the enzyme deficit and not only to modify the elimination.
Asunto(s)
Alcaptonuria/diagnóstico , Ocronosis/diagnóstico , Anciano , Cartílago Articular/patología , Femenino , Humanos , Artropatías/diagnóstico por imagen , Artropatías/fisiopatología , Dolor de la Región Lumbar/etiología , Masculino , Osteoporosis/complicaciones , HermanosRESUMEN
Crystalglobulinemia is an extremely rare pathology that is associated in most cases with plasma cell dyscrasia, mainly multiple myeloma. In most cases, it may be the manifestation of incipient gammopathy or it manifests shortly after diagnosis. We report a patient with ischemic lesions of thrombotic origin in lower limbs. Subsequently, renal involvement occurs, in view of this involvement, it is suspected that the patient may have an associated vasculitis. After performing the biopsy and with the subsequent diagnosis of monoclonal gammopathy of uncertain significance, the diagnosis is made. We review the most recent bibliography of patients who have been diagnosed with crystalglobulinemia associated with plasma dyscrasia focusing in those with thrombotic vasculopathy or acute renal failure. In our case, in addition to being associated with monoclonal gammopathy of undetermined significance that is less frequent, the debut of the symptoms is years before the detection of the monoclonal peak. This could speak of patients with a low peak of monoclonal component (not detected by immunoelectrophoresis) who could have kidney and vascular damage.
Asunto(s)
Paraproteinemias/diagnóstico , Lesión Renal Aguda/etiología , Lesión Renal Aguda/cirugía , Adulto , Diagnóstico Tardío , Femenino , Humanos , Trasplante de Riñón , Gammopatía Monoclonal de Relevancia Indeterminada/diagnóstico , Mieloma Múltiple/complicaciones , Paraproteinemias/complicaciones , Paraproteinemias/fisiopatología , Microangiopatías Trombóticas/patologíaRESUMEN
No disponible
Asunto(s)
Humanos , Masculino , Femenino , Terapias Complementarias/métodos , Osteoporosis/diagnóstico , Columna Vertebral/anomalías , Columna Vertebral , Fracturas Óseas/diagnóstico , Estudios de Seguimiento , Osteoporosis , Imagen por Resonancia Magnética/métodos , Espectroscopía de Resonancia Magnética/métodos , 35170 , Tamizaje Masivo/métodos , Cifoplastia/métodos , Fracturas de la Columna VertebralRESUMEN
Serial measurement of liver enzymes is useful to detect liver toxicity due to methotrexate in patients with rheumatoid arthritis or other rheumatic diseases. We have reviewed retrospectively 141 adult patients treated with methotrexate from 1988 to 1991. The more common diagnoses included rheumatoid arthritis (120 cases) and psoriatic arthritis (12 cases). In periodic studies carried our every 2-3 months, a transient increase in transaminase values associated with methotrexate in 13 patients (9.2%) was observed. Two patients developed a viral infection during therapy, one due to cytomegalovirus and the other due to the Epstein-Barr virus. Both patients had a favorable outcome once methotrexate was withdrawn.