Objetivo: Nuestro objetivo fue evaluar la historia familiar de los pacientes con litiasis renal y la correlación de los antecedentes familiares con su correspondiente alteración bioquímica, considerando solo aquellos con una única alteración metabólica. El papel de la herencia es evidente en enfermedades monogénicas como la cistinuria, la enfermedad de Dent o la hiperoxaluria primaria, mientras que se ha propuesto una herencia poligénica para explicar la tendencia a la formación de cálculos de oxalato de calcio. Diferentes estudios epidemiológicos han mostrado un componente familiar en la incidencia de la misma, que es independiente de los factores dietéticos y ambientales. However, there were no statistically significant associations between any of the 24 DNA variants and TTPP in a population from northeast Mexico.Resumen Introducción: La presencia de antecedentes familiares de nefrolitiasis se asocia con un mayor riesgo de litiasis renal. Based on the analysis, two DNA variants were found to potentially confer an increased risk for TTPP: S1PR1 rs3737576 and AIM rs2330442 (OR, 4.50 95% CI, 1.21‑16.69), and one variant was suggested to be possibly associated with TTPP, namely MUC1 rs4072037 (OR, 3.08 95% CI, 0.841‑1.38). Only two cases (18%) had a previous diagnosis of hyperthyroidism the rest were diagnosed subsequently with Graves' disease. A total of 11 patients were recruited, comprising nine males and two females (age range, 19‑52 years) and 64 control subjects. A total of 16 gene variants in the genes MUC1, CACNA1S, KCNE3 and SCN4A, and nine ancestry informative markers (AIMs), were analysed by Multiplex TaqMan™ Open Array assay, and a genetic association study was performed. Gonzalez’ in Monterrey, Nuevo León, Mexico, and were diagnosed with TTPP was performed. A prospective and a retrospective search of the medical records of patients who attended the emergency department at the Hospital Universitario ‘Dr.

and epidemiological characteristics of patients with TTPP are described, together with their association with genetic variants reported previously in other populations. Hyperthyroidism has been associated with thyrotoxic periodic paralysis (TTPP) (OMIM TTPP1 and TTPP2), and genetic susceptibility has been implicated. Hypokalemic periodic paralysis type 1 (OMIM HOKPP1) and type 2 (OMIM HOKPP2) are diseases of the muscle characterized by episodes of painless muscle weakness, and is associated with low potassium blood levels.

Herencia poligenica pdf