We report the clinical features of the original Chilean family with Kufor-Rakeb syndrome (KRS) that led to the discovery of the ATP13A2 gene at the PARK9 locus. KRS is a rare juvenile-onset autosomal recessive disease characterized by progressive Parkinsonism, pyramidal signs, and cognitive decline in addition to vertical gaze palsy and facial-faucial-finger minimyoclonus. Neurological and neuropsychological examination during a 10-year period, videotaping, neuroimaging, and measurement of DNA methylation of the ATP13A2 promoter region were performed. The youngest 5 of 17 children of nonconsanguineous parents, carrying compound-heterozygous ATP13A2 mutations, had normal development until ages ∼10 to 12 years, when school performance deteriorated and slowness, rigidity, and frequent falls developed. Examination revealed bradykinesia, subtle postural/action tremor, cogwheel rigidity, spasticity, upward gaze palsy, smooth pursuit with saccadic intrusions, and dementia. Additional signs included facial-faucial-finger minimyoclonus, absent postural reflexes, visual/auditory hallucinations, and insomnia. Levodopa response could not be fully judged in this family. T2* magnetic resonance imaging sequences revealed marked diffuse hypointensity of the caudate (head and body) and lenticular nucleus bilaterally. Disease progression was slow including epilepsy, cachexia, and anarthria. Four affected members died after 28.5 ± 5.5 (mean ± SD) years of disease. Two heterozygous carriers, the mother and eldest sibling, showed jerky perioral muscle contractions and clumsiness of hand movements. There was no significant correlation between DNA methylation of the ATP13A2 promoter region and disease progression. The marked caudate and lenticular nucleus T2*-hypointensity suggests that KRS might belong to the family of neurodegenerative diseases associated with brain iron accumulation.
Patients with chronic renal failure (CRF) are continuously exposed to hyperkalemia. In these patients the extrarenal disposal of a potassium load may be very important to determine the plasma potassium levels. We studied the effect of a combined oral load of potassium (0.5 mEq/kg body weight) and carbohydrate (0.5 g/kg body weight) to mimic normal ingestion of potassium. Eight CRF patients and 5 control subjects were studied. The maximal increase in plasma potassium levels achieved was significantly higher in the patients (1.07 ± 0.1 mEq/l) than in controls (0.39 ± 0.05 mEq/l). Basal insulin levels were higher in the CRF patients and increased with the oral potassium and carbohydrate load in both controls and patients. In the CRF patients only 58.9 ± 3% of the potassium load was translocated to the intracellular space compared to 81 ± 6% in the controls. No correlation was found between the acid base status and maximal potassium increase. We conclude that patients with CRF exhibit an impaired extrarenal handling of potassium and that this abnormality does not appear to be related to insulin secretion or acid base status.
La ecuación CKD-EPI fue desarrollada para mejorar la subestimación de la tasa de filtrado glomerular estimada (TFGe) por la ecuación MDRD-4 IDMS en valores > 60 mL/min/1,73m2. Con el objetivo de evaluar el comportamiento de ambas ecuaciones y el efecto sobre la clasificación por estadio G en una muestra de estudiantes de Bioquímica de Santa Fe se obtuvieron los valores de TFGe en 95 estudiantes voluntarios. Los valores de TFGe por CKD-EPI fueron más altos que los obtenidos por MDRD-4 IDMS, en general y por sexo y por estadios G. Más de la cuarta parte de los estudiantes con TFG ligeramente disminuida según MDRD-4 IDMS se reclasificaron como TFG normal-alta según CKD-EPI, proporción más alta en mujeres. Los hallazgos aportan a la evaluación del comportamiento de CKD-EPI en un grupo etario sobre el que existen pocos reportes y apoyan en la muestra las ventajas frente a MDRD-4 IDMS expuestas por sus autores.
Introducción: la proteinuria es marcador clásico de daño renal. La organización Kidney Disease: Improving Global Outcomes (KDIGO) categoriza en 2012 la proteinuria de 24 h (PER) como mg/24 h o la relación proteinuria/creatininuria en muestra aislada (PCR) como mg/g así: A1, normal-levemente aumentada (<150); A2, moderadamente aumentada (150-500), y A3, severamente aumentada (>500). La PER es el gold standard y la PCR fue incorporada para evitar recolección de 24 h, pero la equivalencia numérica entre ambas es controvertida. El valor 150 mg/24 h tiene relevancia diagnóstica/pronóstica en enfermedad renal crónica.Objetivos: determinar, en una muestra de estudiantes argentinos, la correlación de PCR en primera orina matutina con PER, el valor de corte (VdC) de PCR predictor de PER=150 mg/24 h y la concordancia entre ambas metodologías para la categorización A según valores de PCR de la clasificación KDIGO 2012 y del VdC hallado.Materiales y métodos: estudio descriptivo, analítico y transversal realizado en una muestra de 51 estudiantes. Determinaciones en orina de 24 h y en la primera matutina. Proteínas: método rojo de pirogalol molibdato; creatinina: Jaffé cinético. Correlación: coeficiente de Spearman; concordancia: Bland-Altman y kappa. VdC: análisis ROC (receiver operating curve). Programas: Excel yMedcalc. IC95 %, p<0,05.Resultados: proteinuria (mediana/rango intercuartil), PER (mg/24 h): 106,00/83,64-137,82; PCR (mg/g): 58,00/50,50-87,00; p=0,025; coeficiente Spearman: 0,5540; Bland-Altman media de las diferencias (PER-PCR): 31,4. ABC=0,883 (IC95%: 0,762-0,956); VdC=82 mg/g; S=90 %; E=82,9 %; RP+=5,27; RP-=0,12. Concordancia en categorización A: kappa empleando PCR 150 mg/g: 0,106 (IC95%: -0,134-0,347), pobre-leve; kappa empleando VdC hallado: 0,4568 (IC95%: 0,2063-0,6505), leve-considerable.Conclusiones: la concordancia en categorización A mejora al utilizar el VdC. Destaca la importancia de no usar como equivalentes PCR=150 mg/g y PER=150 mg/24 h para diferenciar proteinuria normal de aumentada, sino la necesidad de establecer en cada laboratorio los VdC correspondientes.
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