Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism.

DNA sequencing revealed seven different glucose-6-phosphate dehydrogenase (G6PD) mutations in G6PD deficient subjects from 10 Polish families. Among them we found two novel mutations: 679C-->T (G6PD Radlowo, class 2) and a 1006A-->G (G6PD Torun, class 1). Variant G6PD Radlowo was characterized biochemically. Both novel mutations were analyzed using a model of the tertiary structure of the human enzyme. The main chain of G6PD Torun is different from the wild-type G6PD. The remaining mutations identified by us in deficient Polish patients were: 542A-->T (G6PD Malaga), 1160G-->A (G6PD Beverly Hills), 1178G-->A (G6PD Nashville), 1192G-->A (G6PD Puerto Limon), and 1246G-->A (G6PD Tokyo). Variant Tokyo was found in four families. In one of them favism was the first clinical sign of G6PD deficiency and chronic nonspherocytic hemolytic anemia (CNSHA) was diagnosed later. Variants G6PD Nashville and G6PD Puerto Limon were accompanied by the silent mutation 1311C-->T of the G6PD gene.

Erythrocyte glucose-6-phosphate dehydrogenase deficiency in Poland--a study on the 563 and 1311 mutations of the G6PD gene.

Studies on the mutation 563T and silent mutation 1311T of the glucose-6-phosphate dehydrogenase (G6PD) gene in Poland were performed in 26 families affected with G6PD deficiency classified-according to WHO-as group 2 G6PD deficiency. Both mutations were found in 19 families, including 17 of Polish origin. Mutation 563T alone was found in 1 Greek female. The frequency of the silent mutation 1311T in Polish unaffected controls was 0.10. It is postulated that at least parts of the Polish (or Middle-Eastern European) and Mediterranean populations are of a common origin.

[Effect of hemodialysis on the level of serum digoxin-like substance and sodium-potassium pump activity in erythrocytes from patients with chronic renal failure]. / Wplyw hemodializy na stezenie substancji digoksynopodobnej w surowicy krwi i aktywnosc pompy sodowo-potasowej w erytrocytach chorych z przewlekla niewydolnoscia nerek.

Digoxin-like immunoreactivity (DLS) and erythrocyte sodium-potassium pump (PSP) activity were measured in a group of 16 patients with chronic renal failure (CRF) before and just after haemodialysis and in a group of 9 healthy persons. Before haemodialysis DLS was present in the blood of most CRF patients, at the mean concentration of 0,14 +/- 0,13 micrograms/l. After haemodialysis DLS concentration decreased to 0,09 +/- 0,09 microgram/l (p less than 0,01). In the control group blood DLS concentration was nondetectable. In the CRF group PSP activity was higher before than after haemodialysis (p less than 0,01; 12,1 +/- 1,8 and 7,6 +/- 1,4 muMol Pi/h/g Hb. PSP activity in the control groups was 10,3 +/- 1,9 muMol Pi/h/g Hb). In the CRF group PSP activity was higher before haemodialysis (p less than 0,05) and lower after haemodialysis (p less than 0.01) than in the control group. Our results confirmed the presence of DLS in the blood of the majority of CRF patients. DLS concentration decreased after haemodialysis but we did not found any parallel increase in PSP activity in these patients. These results did not confirm the hypothesis that DLS might inhibit PSP activity in red blood cells from CRF patients.

[Clinical trial of mannose treatment of hemolytic anemia caused by congenital deficiency of erythrocyte glucosephosphate isomerase]. / Próba leczenia mannoza niedokrwistosci hemolitycznej na tle wrodzonego niedoboru izomerazy glukozofosforanowej krwinek czerwonych.

A therapeutic trial with mannose given intravenously as a 5% solution during 7 consecutive days (daily doses 12.5 g, 25 g and 50 g) was performed in a GPI deficient girl with nonspherocytic hemolytic anemia. The aim of the trial was to substitute glucose--the main red cells metabolic substrate--with mannose, since the glucose metabolism, due to the GPI deficiency, was significantly decreased. An initial good effect of treatment was disturbed with viral infection. No complications due to treatment with mannose were observed.

[Activity of the sodium-potassium pump and values of sodium and potassium in erythrocytes in patients with non-dialyzed renal failure and arterial hypertension treated conservatively]. / Aktywnosc pompy sodowo-potasowej oraz stezenie sodu i potasu w erytrocytach u chorych z niewydolnoscia nerek i nadcisnieniem tetniczym leczonych zachowawczo.

In 8 non-dialysed patients with chronic renal failure (PNN) and hypertension (NT)-(PNNT group) sodium-potassium pump activity (PSP) and intra-erythrocyte sodium (NaE) and potassium (KE) concentration were measured. No differences were found in PSP, NaE and KE between group PNNT and healthy volunteers (Z). These results do not support an importance of the role of the so-called endogenous PSP inhibitor in the pathogenesis of NT in patients with PNN.

[Favism in Polish families]. / Fawizm w rodzinach polskich.

Four cases of fawism are presented. The disease was seen in one male patient, one homozygote and in 3 carriers of G6PD deficit. Diagnostic procedures, course of the haemolytic crisis in these patients, and possibility of prophylaxis in the families with fawism are discussed.

[Intracellular electrolytes and selected biochemical parameters in patients with borderline arterial hypertension and positive family history of hypertension]. / Elektrolity wewnatrzkomórkowe i wybrane parametry biochemiczne u chorych na nadcisnienie tetnicze graniczne i z dodatnim wywiadem rodzinnym w kierunku nadcisnienia.

The studies involved 22 patients with borderline hypertension and familial history of the arterial blood hypertension (mean age 24.6 years) and 9 patients without familial history of hypertension (mean age 22.2 years). Control group included 10 healthy volunteers (mean age 27.5 years). Erythrocyte Na+ and K+ levels, daily secretion of noradrenaline (NA), adrenaline (A) and dopamine (DA), prostacyclin metabolite 6-keto-PGF1 alpha, beta-thromboglobulin levels (beta-TG), triglyceride cholesterol, and HDL-cholesterol were determined in all examined subjects. Friedewald's equation was used to calculate LDL-cholesterol. Moreover, LCAT activity was measured. An increase in erythrocyte Na+, increased sympathetic activity, excessive platelet activity and decreased 6-keto-PGF1 alpha levels were found in the group of hypertensive patients with familial history of the arterial blood hypertension. HDL-cholesterol was significantly lower in these patients than in the control group. Atherogenic index (cholesterol/HDL-cholesterol ratio) was the highest in the hypertensive patients with familial history of the arterial blood hypertension. The difference was insignificant, however. Patients with the borderline hypertension and familial predisposition to this disease differ from the hypertensive patients without familial history of the arterial hypertension in humoral profile suggesting a contribution of the genetic factors to the development of the arterial blood hypertension.

[Effect of treatment with enalapril maleate on the levels of circulating catecholamines, beta endorphins, prostaglandins, and concentration of sodium in erythrocytes in patients with essential hypertension]. / Wplyw leczenia maleinianem enalaprylu na stezenie krazacych amin katecholowych, beta-endrofiny, prostaglandyny oraz stezenie sodu w krwinkach czerwonych u chorych na pierwotne nadcisnienie tetnicze.

An effect of enalapril maleate on the activity of renin-angiotensin-aldosterone system and sympathetic reactivity, erythrocyte prostaglandin and sodium levels as well as blood beta-endorphin was investigated in 28 patients with the essential arterial blood hypertension. It was found that enalapril maleate significantly increased plasma renin activity, decreased plasma norepinephrine and its 24-hour excretion, and decreased erythrocyte beta-endorphin and sodium levels. Blood epinephrine and aldosterone levels and their daily excretion remained unchanged similarly to prostaglandins. The above results suggest that a decrease in sympathetic system activity and intracellular sodium concentration may play a role in the hypotensive action of enalapril maleate related to the inhibition of angiotensin II formation.

[Cyanosis in children caused by inherited methemoglobinemia due to deficiency of NADH-dependent methemoglobin reductase in erythrocytes]. / Sinica u dzieci spowodowana wrodzona methemoglobinemia na tle niedoboru reduktazy methemoglobiny NADH-zaleznej krwinek czerwonych.

Two cases of the congenital methemoglobinemia in children due to the deficiency of NADH-dependent methemoglobin reductase in erythrocytes. These children were referred to the Cardiological Ward at the Child Health Centre with suspected cyanotic heart defect. Cardiological examinations excluded heart defect but an increased blood methemoglobin level and decreased activity of NADH-dependent methemoglobin reductase were found, that caused methemoglobinemia. Methylene blue and vitamin C diminished cyanosis. These cases advocate inclusion of methemoglobinemia into differential diagnosis of cyanotic disorders especially if there is no evident pathology in cardio-vascular system.

The red cell sodium, potassium, inorganic phosphate, ATP and 2,3DPG concentrations in chronic renal failure.

In dialysis and non-dialysis patients with terminal renal failure the red cell ATP and 2,3 DPG concentrations are increased. Inorganic phosphate level in red cells is nearly normal in both groups of patients. The red cell potassium concentration is decreased in both groups. Sodium concentration in red cells is significantly lower in dialysis than in non-dialysis patients, the former being lower and the latter being higher, than the average normal value.