[Hepatic steatosis associated with heterozygotic familial hypobetalipoproteinemia]. / Esteatosis hepática asociada a hipobetalipoproteinemia familiar heterocigótica. Presentación de un caso.

Fatty liver disease is now recognized as a major health burden, due to the greater number of cases that are being diagnosed. This trend could partly be explained by the increased use of liver ultrasonography in asymptomatic patients for various reasons, mainly persistent transaminase elevation. The most commonly reported risk factors associated with fatty liver disease are chronic alcohol intake, obesity, type 2 diabetes mellitus, hyperlipidemia, and some drugs. When these factors have been ruled out in a patient with a fatty liver, less frequent causes such as certain inherited metabolic disorders should be considered. Familial hypobetalipoproteinemia is characterized by an alteration of apolipoprotein B (apo B) synthesis, leading to the secretion of truncated forms of the protein, which in turn leads to a marked reduction in excretion of very low-density lipoproteins from the liver and consequently to lipid deposits, especially triglycerides, in the hepatocytes. We report the case of a 23-year-old man who met the diagnostic criteria for heterozygous familial hypobetalipoproteinemia. He presented with mild transaminase elevation and fatty liver. Total cholesterol, low-density lipoprotein cholesterol, very low-density lipoprotein cholesterol and apo B were below normal limits, while levels of high-density lipoprotein cholesterol were normal. Lipid profile determination and liver ultrasonography of first and second-degree relatives were also performed. Molecular studies of the index case revealed an unaffected apo B gene.

[Validity of semiquantitative methods of microalbuminuria screening in diabetes mellitus]. / Validez de los métodos semicuantitativos de cribado de la microalbuminuria en la diabetes mellitus.

OBJECTIVE: To analyse the validity of the Micraltest and Microbumintest semi-quantitative methods for microalbuminuria screening in type 2 diabetes mellitus in primary care clinics. DESIGN: Crossover study to validate diagnostic tests. SETTING: Three general practices at an urban health centre. PATIENTS: Consecutive sample of 64 diabetics not dependent on insulin. MEASUREMENTS AND MAIN RESULTS: Each patient's own doctor performed in the consultation the semi-quantitative determinations in a simple sample of the morning's first urine. As standard, a rate of albumin excretion above 20 micrograms/min, determined by immunonephelometry in a 2-hour controlled time sample, was used. The prevalence of Microalbuminuria was 25% (C.I. 95%, 14.4-35.6). The sensitivity of Micraltest was 69% (CI, 42-88), and its specificity 52% (CI, 37-67), corresponding to the cut-off point of 10 mg/L. The sensitivity of Microbumintest was 63% (CI, 36-84), and its specificity 67% (CI, 52-79). The combination of both tests in one sample had 75% sensitivity (CI, 47-92) and 44% specificity (CI, 30-59). Negative predictive values ranged between 84 and 85%. CONCLUSIONS: The semi-quantitative microalbuminuria detection tests are of limited use in the primary care clinic. Their sensitivity and the negative predictive value obtained in an isolated sample do not seem acceptable for a screening method.