[Uniform programme in caring for patients with acute hepatic porphyria]. / Ujednolicony program postepowania z chorymi na ostre porfirie watrobowe.

The programme commissioned by the Ministry of Health is presented. Data basis for the years 1996-1998 were created. A booklet on diagnosis, treatment and prophylaxis of porphyrias was edited and distributed in Poland in 5000 copies to all hospitals, major laboratories, medical libraries, regional officers as well as patients. The booklet lists simple diagnostic methods which can be easily introduced to hospital laboratories for early diagnosis of porphyria. It also includes a list of the safe drugs for patients with porphyria. Several lectures for doctors and medical staff were delivered, nine publications appeared and six others were accepted for publication. Results of the work, evaluated after three years are as follows. Early clinical diagnosis of porphyria and its prophylaxis among family members has significantly improved. The frequency of severe attacks and the mortality rate due to porphyria has been reduced to singular cases. The proposed organization of small regional centers (with help of Porphyria Center), oriented at early diagnosis of porphyria appears to be impossible without further financial support.

[Anti - T. gondii antibody concentration in sera of pregnant women in the sample of Lódz population]. / Stezenie przeciwcial anty -T. gondii w surowicy kobiet ciezarnych w próbie populacji regionu lódzkiego w roku 1998.

The aims of the study were: to estimate the prevalence of Toxoplasma gondii in pregnant women in the Lódz region; to assess the rate of incidence of suspected recent infection based on the results of the standard test for specific anty -T. gondii IgG and IgM antibodies. The study covered 1920 pregnant women served in 1998 by Toxoplasma Reference Laboratory in Lódz. T. gondii specific IgG and IgM were quantitated by an enzym-linked immunoabsorbent assay (ELISA, Organon). We have demonstrated high prevalence of T. gondii among pregnant women in the Lódz region. In the analysed sample of Polish population the T. gondii-specific IgG with negative IgM occurred in 43.4% (n = 837). In 1.42% of pregnant women IgG and IgM specific antibodies were detected.

[[35 Years of effort to improve the diagnosis of porphyria]. / 35 lat staran o lepsze rozpoznawanie porfirii.

World history of porphyria is given in brief. The activities of Porphyria Center during period of 25 years have shown how difficult it was to introduce diagnostic measures for this rare and very little known group of diseases. The obstacles encountered during the popularization of the knowledge of porphyria were: minimal information on porphyria, very seldom seen in Poland, therefore rather negative approach of the doctors to these patients,--almost never porphyria was seen in differential diagnostics of abdominal pains or polyneuropathies, herefore diagnosis, if made, was very late, often just before death. From the other side insufficient support for doctors was given by laboratories because of the lack of simple diagnostic tests. Along the 35 years of the work in the Institute of Haematology and Transfusiology the situation was steadily improving but slowly due to technical and economical difficulties. The Center was organized, now well equipped and able to diagnose and differentiate all types of porphyrias. A computerised basis of the collected material consist of 383 families (6000 persons registered). Among them there are nearly 600 acute (who have passed one or more attacks of porphyria) and about 1000 latent cases of porphyria. The mortality which was 52% in the first collected group of patients (1960-1970) has fallen to less than 10% concerning very severe and late diagnosed attacks. In 1996-1998 there were only two deaths during attacks of porphyria in Poland.

[Social problems of porphyria]. / Problemy spoleczno--socjalne w porfirii.

Late consequences of the attacks of acute porphyrias were studied. Among 312 patients who were investigated the motor disability (neuropathy) was found in 9 patients, psychoneurological changes in 1 case and drug abuse in 7 subjects. In the group of 200 patients in remission (chosen at random) 72 persons (36%) received a disability pension. The existence of problems in change of the profession when it was necessary for health-reasons was marked. It was find that Dolargan (Pethidine) is too often applied to the patients in remission. It was made the warning that drug dependence will arise very easy in patients with porphyria.

[The course of acute hepatic porphyria]. / Przebieg ostrych porfirii watrobowych.

Acute hepatic porphyrias are the diseases dependent on the congenital metabolic defects of the hem biosynthesis. The diagnosis of porphyria only on the grounds of clinical picture is extremely difficult as it is presented by the variety of symptoms, often imitating other diseases. In each case the diagnosis must be confirmed by the biochemical and enzymatic investigations. In the paper we described different clinical courses of the acute hepatic porphyrias. The acquaintance with the symptoms of porphyrias enables to decrease the number of complications connected with diagnostic and therapeutic errors what is still a serious economic problem.

Acute hepatic porphyrias. Detection, prophylaxis and treatment.

Between 1962 and 1944, 300 families with acute hepatic porphyrias were seen at the Porphyria Centre in Warsaw. Among members of these families, 443 overt and 707 latent cases were diagnosed, and 211 persons had intermediate values of enzyme activity without clinical symptoms and biochemical changes in urine and stool. Three dual porphyrias were detected. Five children with acute symptoms were also seen. The patients and their relatives were registered and routine prophylactic measures were introduced. The treatment of the attacks was based on glucose and hemearginate infusions, a high carbohydrate diet and maintenance of body homeostasis. As a late consequence of the attack acute intermittent porphyria arterial hypertension was observed.

Coexistence of hereditary coproporphyria with acute intermittent porphyria.

A new form of acute hepatic porphyria with double genetic defect--deficiency of porphobilinogen deaminase and coproporphyrinogen oxidase--is described. Among 17 studied family members this double enzymatic deficiency was found in five individuals, deficiency of porphobilinogen deaminase in four, and deficiency of coproporphyrinogen oxidase in two. Only the proband had an attack of porphyria. Apart from the proband, all family members had normal urinary PBG excretion. Increased faecal coproporphyrin excretion was found in three people. The results obtained suggest that deficiency of porphobilinogen deaminase and coproporphyrinogen oxidase can be inherited independently. coproporphyrinogen oxidase can be inherited independently.

[Porphyrin fluorescence in plasma of various types of porphyria]. / Fluorescencja porfiryn w osoczu w róznych typach porfirii.

Fluorescence spectra of plasma porphyrin were measured in 6 patients with the acute intermittent porphyria (AIP), 30 patients with variegate porphyria (PV), 2 patients with hereditary coproporphyria, 2 patients with porphyria cutanea tarda, and in 6 patients with erythropoietic protoporphyria (EPP). It was found that the excitation and emission wavelengths at which maximum fluorescence is seen may help to diagnose and differentiate PV and EPP. In patients with AIP spectrum characteristic for porphyria of such a type was noted in all patients during the attack of disease and in only 33% of patients in remission. Fluorescence spectrum was normal in asymptomatic family members. In variegate porphyria spectrum with a characteristic maximum of fluorescence was noted in all patients during an attack and remission, and 62% of the asymptomatic family members.

Heme arginate (Normosang) in the treatment of attacks of acute hepatic porphyrias.

The treatment with heme arginate of 47 attacks of acute hepatic porphyrias are presented. Distribution of patients into three groups of severity has shown that the best clinical response is obtained when the treatment starts in the first three weeks from the beginning of the symptoms and in patients without deep involvement of the nervous system. The decrease in elimination of the precursors of heme was about 60% (mean) in comparison to the preinfusion values, non corresponding firmly with the clinical improvement.

[Acute intermittent porphyria and arterial hypertension]. / Ostra przerywana porfiria a nadcisnienie tetnicze.

A group of 40 female patients with acute intermittent porphyria from 5 to 34 years after attacks of porphyria were examined. In two patients arterial hypertension developed before attack. In 18 cases hypertension was observed in different periods of time after attack. The comparison of these findings with epidemiological data of similar group of the Polish population suggests that arterial hypertension develops earlier and more frequently in female patients with acute intermittent porphyria. Periodic control of blood pressure in patients with acute intermittent porphyria is proposed.

[Factors inducing clinical symptoms of acute hepatic porphyria 1986-1990]. / Przyczyny indukujace objawy kliniczne ostrych porfirii watrobowych w latach 1986-1990.

The most frequent cause of porphyria attacks in this time period were drugs used in symptomatic treatment (in 69 out of 195 cases). In 42 women attacks were induced by sex hormone disturbances, in 21 cases by contact with paints and lacquer in 7 by alcohol and in 3 by calorie deficiencies. The main cause of porphyria attacks in carriers of this metabolic error is lack of porphyria considering in the differential diagnosis of abdominal pains, polyneuropathy and vague mental disorders, which leads to erroneous treatment worsening the course and prognosis of the disease.

[A decrease in plasma sodium ion during the course of an acute attack of porphyria]. / Zmniejszenie stezenia jonu sodowego w osoczu w przebiegu ostrego napadu porfirii.

Sodium ion level disorders were analysed in 53 patients with porphyria during 84 acute attacks of the disease. Thirty two daily water-electrolyte balances in 6 patients treated at ICU were analysed in detail. A decrease in sodium ion levels in patients with porphyria is rather rare and most frequently transient during the acute attack of the disease. Noted disorders were not characteristic for the reported syndrome of the abnormal antidiuretic hormone release. The treatment of the acute attack of porphyria requires the achievement of the positive energy balance which leads to the normalization of sodium ion levels despite intensive hydratation of some patients.

Increased activity of porphobilinogen deaminase in erythrocytes during attacks of acute intermittent porphyria.

The activity of porphobilinogen deaminase was determined in 25 patients with acute intermittent porphyria during and after fully developed attacks of porphyria. It was found that in most cases (in 20 of 25) it was higher than 24.3 nmoles/ml erythrocytes/hour, a value considered as characteristic for acute intermittent porphyria, and that it decreased during convalescence and remission. In a proportion of these cases the decrease in the activity of the enzyme was parallelled by decreasing urinary excretion of porphobilinogen. A normal activity of porphobilinogen deaminase during an attack of porphyria can be a source of error in the differential diagnosis of porphyria.