Chronic elevation of liver enzymes in acute intermittent porphyria initially misdiagnosed as autoimmune hepatitis.

Autoimmune hepatitis is a disease characterized by an elevation of liver enzymes, as well as specific autoantibodies. It is more common in women than men. We describe a 32-year-old woman with elevated transaminases, autoantibodies, and a liver biopsy result suggestive of autoimmune hepatitis. The indicated treatment was administered without showing a satisfactory response. The patient had a family history of acute intermittent porphyria (AIP) so we decided to begin treatment with hematin, achieving a complete remission of the symptoms. Acute intermittent porphyria is a rare condition characterized by neurovisceral symptoms, abdominal pain being the most common of them. The disease has a higher prevalence among young women and certain European countries such as Sweden, Great Britain, and Spain. A correct diagnosis and prompt treatment are essential because patients affected by AIP must have a strict followup due to the fatal outcome of the outbreaks.

Renin-angiotensin-aldosterone system and G-protein beta-3 subunit gene polymorphisms in salt-sensitive essential hypertension.

Approximately 50% of hypertensive patients are salt sensitive (they increase their Blood Pressure in response to sodium intake or volume expansion). Mechanisms underlying salt sensitivity are not completely elucidated although there is evidence that they may be genetically determined. The aim of this study is to establish the relation among some genetic polymorphisms of the renin-angiotensin system (RAAS) and the beta-3 subunit of the protein G and salt sensitivity. We studied 102 essential hypertensive patients, stage 1-2 and without target organ damage. Salt sensitivity was assessed by the rapid protocol of Weinberger. We determined by polymerase Chain reaction techniques the following polymorphisms: insertion/deletion (I/D) of the angiotensin-converting enzyme (ACE), A1166C of the angiotensin II type 1 receptor (AT1R), -344C/T and intron 2 conversion (IC) of the aldosterone synthase (CYP11B2), and C825T of the beta-3 subunit of the protein G (GNB3). 41 patients (40.19%) were salt sensitive. The distribution of the different polymorphisms was similar in both groups of patients, but subjects carriers of the W allele of the CYP11B2 IC polymorphism had a greater risk for salt sensitivity as compared with no carriers (37 of 41, 90.2% vs 4 of 41, 9.8%, OR 3.02, P<0.05). Although there is no association between salt sensitivity and the different studied genotypes of the RAAS and of the GNB3, our data show a greater risk for salt sensitivity among carriers of the W allele of the CYP11B2 1C polymorphism.

Hepatitis aguda colostástica como forma de afectación extranodal primaria de un linfoma no Hodgkin

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Cortisol, aldosterona diferentes formas de hipertensión: papel de al 1 p-hidroxiesteroide dehidrogenasa

El cortisol y la aldosterona tienen la misma afinidad por el receptor minera locorticoide del túbulo distal. Pese a que el cortisol circula en plasma a concentraciones más de 100 veces superiores a las de la aldosterona, en situaciones normales éste no ejerce acción mineralocorticoide. Ello es así gracias a la existencia de una enzima: la 11 beta-hidroxiesteroide dehidrogenasa, que degrada al cortisol a su metabolito biológicamente inactivo: la cortisona. Existen situaciones en las que la actividad de la enzima es deficiente y en ellas el cortisol ejerce una potente acción mineralocorticoide. El paradigma sería el síndrome de exceso aparente de mineralocorticoide o la ingesta masiva de regaliz. Sin embargo, existen otras situaciones en las que la actividad de la enzima podría ser deficitaria; entre ellas están el síndrome de Cushing, algunos modelos de hipertensión animal o incluso algunos pacientes con hipertensión esencial. De todo ello nos ocuparemos en las siguientes líneas (AU)

Estudio analítico cromatográfico de los metabolitos urinarios del cortisol / Analytical chromatography study of urinary cortisol metabolites

El objetivo de nuestro trabajo ha consistido en estudiar el cortisol y sus metabolitos urinarios. El conocimiento de estos compuestos, así como de la actividad enzimática 11Beta-hidroxiesteroide-deshidrogenasa tiene gran interés clínico porque nos proporciona información sobre el estado de la función adrenal. Se han descrito diferentes métodos, todos ellos relacionados con la cromatografía líquida de alta resolución (HPLC) usando el radioinmunoensayo o la espectometría de masas para la cuantificación final. Nosotros hemos analizado estos metabolitos urinarios en 25 sujetos clínicamente sanos realizando la valoración final en el propio sistema de HPLC mediante un detector ultravioleta-visible (UV-VIS). LA metodología empleada presenta la ventaja de su rapidez y economía, y los resultados obtenidos pueden ser utilizados en la práctica clínica (AU)

[The effect of the angiotensinogen M235T and the angiotensin-converting enzyme I/D polymorphisms on arterial hypertension and other cardiovascular risk factors]. / Influencia de los polimorfismos M235T del angiotensinógeno e I/D de la enzima conversiva de la angiotensina sobre la hipertensión arterial y otros factores de riesgo cardiovascular.

BACKGROUND: It has been reported the association between M235T angiotensinogen (AGT) and I/D angiotensin converting enzyme (ACE) gene polymorphisms and hypertension and other cardiovascular risk factors. However there are few data about Spanish population. So that we have studied the relationship among the aforementioned polymorphisms and hypertension and the possibility of association between any polymorphism and a worse cardiovascular risk profile. PATIENTS AND METHODS: 251 hypertensive and 245 control normotensive subjects were studied. The M235T AGT and the I/D ACE gene polymorphisms were determined by polymerase chain reaction (PCR). Family and personal history of cardiovascular disease, lipoprotein profile, microalbuminuria and left ventricular hypertrophy (LVH) by Sokolow index were analyzed in hypertensive patients. RESULTS: The distribution of the different polymorphisms was similar among hypertensive and normotensive subjects. There was not any relationship among AGT nor ACE genotypes and target organ damage. The II ACE genotype was associated with higher lipoprotein (a) (Lp[a]) levels and greater cerebrovascular disease family history and the MT AGT genotype with lower total cholesterol (TC) and triglycerides (TG) levels. CONCLUSIONS: In our study there was not any relationship between arterial hypertension and M235T AGT or I/D ACE gene polymorphisms. None specific genotype was associated with worse cardiovascular risk profile. The II ACE genotype was a predictor of cerebrovascular disease risk through higher levels of Lp(a) and the MT AGT genotype was associated with a better lipid profile.

[Study of the gene of hemochromatosis in first degree relatives of patient with porphyria cutanea tarda]. / Estudio del gen de la hemocromatosis en familiares en primer grado de una paciente con porfiria cutánea tarda.

BACKGROUND: Porphyria cutanea tarda (PCT) is characterized by a deficiency of uroprophyrinogen decarboxylase (URO-D). The activity of this enzyme is decreased in the presence of iron-dependent disorders. A relationship between the hepatic hemosiderosis, which is present in most patients with PCT, and the status of the hemochromatosis gene has been observed. Particularly, two mutations of the gene have been described, one of them (Cys282Tyr) is related to the iron overload and might influence on the development of the clinical signs of PCT. PATIENTS AND METHODS: We have measured the transferrin saturation percentage and observed the status of the hemochromatosis gene in a patient diagnosed with PCT and in five of their relatives. RESULTS: The proband and one sister had a marked increase of uroporphyrins and iron overload, and both had the mutation Cys282Tyr, which was also present in the mother. CONCLUSIONS: This is the first study measuring iron overload and hemochromatosis gene mutations in relatives, and not in patients with PCT. We think that the study of this family justifies the systematic investigation of these parameters in all first degree relatives of patients with PCT, to identify subjects at risk, who can benefit from prophylactic measures and early therapy.

[Transmembrane Na+ transport kinetics in arterial hypertension: relations with vascular risk parameters]. / Cinética del transporte transmembranoso de Na+ en la hipertensión arterial: relación con los parámetros de riesgo vascular.

BACKGROUND: To characterize the possible existence of kinetic anomalies of four erythrocyte membrane sodium transport systems in a group of essential hypertensive patients, and to study the clinical and biochemical profile of those with anomalies. METHODS: We studied 33 essential hypertensive patients and 33 normotensive controls. The kinetics (maximal rate and apparent dissociation constant for internal sodium) of Na(+)-K+ pump, Na(+)-K(+)-Cl- cotransport and Na(+)-Li+ countertransport was calculated after a sodium loading procedure, according to the methods of Garay; the passive Na+ permeability was also determined. RESULTS: The studied kinetic parameters were not significantly different in both groups. Nevertheless, we found a group of hypertensive patients with some transport abnormalities: increased intracellular sodium (9.1%), accelerated Na+ passive permeability (9.1%), lower activity of the Na(+)-K+ pump (7.1%) and the Na(+)-K(+)-Cl- cotransport (4%) and an increased maximal rate of the Na(+)-Li+ countertransport (11.8%). Na+Li+ countertransport activity was statistically related to plasma levels of urea, creatinine, glucose and LDL-cholesterol, and the activity of the Na(+)-K(+)-Cl- cotransport was related to plasma uric acid. The hypertensive patients with sodium transport anomalies showed higher body mass index, uric acid plasma levels and atherogenic index than those without these kind of anomalies, and they also showed lowered HDL-cholesterol plasma levels. CONCLUSIONS: A small group of essential hypertensive patients (around 31%) show kinetic alterations of sodium transport systems. There is a relation between Na(+)-Li+ countertransport activity and some cardiovascular risk parameters. Hypertensive patients with transport anomalies are a group with an increased cardiovascular risk.

[Influence of arterial pressure and plasma renin activity on tubular reabsorption of sodium]. / Influencia de la presión arterial y de la actividad de renina plasmática sobre la reabsorción tubular de sodio.

BACKGROUND: With the aim of confirming the possible existence of an increase in the fractional proximal reabsorption of sodium in the development of essential hypertension, the tubular dynamics of sodium were compared by the lithium clearance technique in a group of hypertensive patients and controls. METHODS: Following a week of drug suspension 186 patients with slight or moderate essential hypertension and 37 normal subjects with homogeneous sodium ingestion were studied. A clearing period of 90 minutes prior to the administration of a tracing doses of lithium was considered to calculate the fractional proximal and distal reabsorption of sodium in terms of glomerular filtration. In addition to global comparison of the measurements, the hypertensives were classified and compared according to mean arterial pressure (MAP) and percentages of plasma renin activity (PRA). RESULTS: No differences were found in tubular dynamics of sodium between hypertensive and normotensive patients. Neither did the degree of hypertension induce differences. However, upon classifying the patients according to PRA, it was found that those with PRA higher than 0.5 ng/ml-1/h-1 had less secondary natriuresis to a greater fractional distal reabsorption of sodium (p < 0.05). CONCLUSIONS: The findings of the this study do not support the possible existence of a primary defect of the transport of sodium in the proximal tubule in the origin and/or maintenance of essential arterial hypertension.

[Renovascular hypertension and Takayasu disease]. / Hipertensión vasculorrenal y enfermedad de Takayasu.

We present three cases of Takayasu disease which were peculiar because all three of them first manifested as vasculorenal hypertension. The pathogenic mechanisms of hypertension in this disease are reviewed, being renal arteries stenosis the most important mechanism. The great prognostic and therapeutic implications of hypertension in these patients made us suggest the performance of arteriographies of supraaortic trunks in all cases of vasculorenal arterial hypertension associated to certain clinical, analytical and/or arteriographic criteria which are mentioned.