[Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease]. / Pompe-kór fenotípusvariációi, kórlefolyása és az enzimpótló kezelés eredményei: hazai tapasztalatok.

UNLABELLED: Pompe's disease is an autosomal recessive disease caused by deficiency of acid-alpha-glucosidase. AIMS AND METHODS: Authors analyzed the phenotype of 11 Hungarian patients with Pompe's disease and evaluated clinical parameters and response to enzyme replacement therapy during a long-term follow-up in 8 patients. RESULTS: One patient with atypical infantile form presented with cardiomyopathy and a very slow progression of motor deficits; after 2 years of enzyme replacement therapy no disability was present at the age 6 years. Another patient was asymptomatic at the age of 2.5 years. The adult onset form was characterized by slight to prominent limb-girdle myopathy with an age of onset between 20 and 50 years. In 3 of such cases respiratory insufficiency was also present. CONCLUSIONS: Hungarian patients with Pompe's disease presented with a wide phenotypic variability ranging from atypical early childhood form with slowly progressive course to late-onset limb-girdle myopathy with variable courses. Enzyme replacement therapy resulted in significant improvement in motor and respiratory functions in most of the patients.

[Pompe's disease. Part II. Treatment strategies and enzyme replacement]. / Pompe-kór. II. rész. A betegség enzimpótló kezelése és terápiás megközelítése.

Pompe's disease is an ultra-orphan disease caused by the deficiency of lysosomal alpha-glucosidase. At present, it is the only inherited muscle disorder, which can be treated by replacement of the enzyme. Three international randomized trials examined the clinical efficacy of enzyme replacement therapy (ERT) in infantile and late-onset diseases. ERT reduced the risk of death, respiratory support, invasive ventilation and improved cardiomyopathy. Respiration, muscle function and quality of life were improved in both infantile and late-onset diseases. These randomized and pilot trials also proved the safety of the treatment. At present it is not clear if antibodies induced by ERT result in decreased efficacy. In this review, we also discuss our experiences obtained by the treatment of three patients, and review the spectrum of supportive and experimental treatment strategies.

[Myopathy associated with respiratory insufficiency: diagnostic difficulties in adult-onset Pompe disease]. / Légzészavarral járó myopathia: diagnosztikai nehézségek egy felnottkori Pompe-eset kapcsán.

INTRODUCTION: Adult-onset acid maltase deficiency myopathy is a rare lysosomal storage disease with an autosomal recessive pattern of inheritance. The disease can be manifested with respiratory insufficiency and fatigue. METHODS: A case of a 45-year-old male patient is presented, and difficulty in diagnosis is discussed. RESULTS: The patient had been repeatedly examined because of hypersomnia, dyspnea and fatigue for a full year before a neurological consultation was requested. Artificial ventilation resulted in a dramatic improvement of his symptoms. Neurological examination revealed myopathy. Electrophysiological myotonia and glycogen storage in muscle biopsy specimen suggested acid maltase deficiency. The diagnosis was established by genetic testing detecting the previously described homozygous c.-45T > G mutation in the alpha-glucosidase gene. DISCUSSION: Rare hereditary neurological diseases can be also suspected as cause of chronic unexplained respiratory insufficiency resulted in hypersomnia and fatigue due to hypercapnia and myopathy. A proper diagnosis can contribute to early diagnosis and introduction of enzyme replacement therapy may reduce or stop clinical progression. Genetic diagnosis can also provide a possibility for prenatal testing.

[Tuberculosis due to multidrug resistant Mycobacterium tuberculosis Beijing genotype identified by DNA fingerprinting: the first case identified in Hungary]. / DNS ujjlenyomat-vizsgálattal azonosított Beijing genotípusú Mycobacterium tuberculosis okozta multidrog rezisztens tuberculosis: az elso Magyarországon igazolt eset.

In a 28 years old Mongolian woman in whom pulmonary tuberculosis was diagnosed a poly- and multidrug (isoniazid, rifampicin, pyrazinamide, ethambutol, streptomycin) resistant Mycobacterium tuberculosis was isolated from sputum in 2002. Since the patient was from a country with high tuberculosis incidence it was conceivable that she had been infected by a strain with primary resistance in Mongolia. In order to confirm the origin of the strain an IS6110-based DNA fingerprint test was performed on the isolate. The assay revealed that the isolated M. tuberculosis strain belonged to the so-called Beijing family which was never detected in Hungary before.

[Correlations between gastroesophageal reflux disease and obstructive sleep apnea]. / A gastro-oesophagealis refluxbetegség és az obstruktív alvási apnoe kapcsolatának vizsgálata.

INTRODUCTION: Several studies have reported an increased prevalence of gastroesophageal reflux disease in patients with obstructive sleep apnea. The increasingly negative intrathoracic and transdiaphragmatic pressure should facilitate of reflux-events during apnea. AIMS: The aim of the present study was to investigate whether there exists a link between endoscopic severity of reflux disease and the parameters of obstructive sleep apnea and the typical symptoms of reflux disease. METHODS: 57 patients with proven obstructive sleep apnea were divided into two groups according to the severity of the sleep apnea: "mild-moderate"--apnea-hypopnea index > or = 5-30, n = 27, "severe"--apnea-hypopnea index > 30, n = 30. All patients underwent upper panendoscopy, apnea monitoring during the night and were asked about existing and frequency of typical reflux symptoms. RESULTS: All examined patients in both groups showed significant overweight and there was a positive correlation between body mass index and the degree of sleep apnea (p = 0.0002). The occurrence of erosive reflux disease was significantly higher in "severe" group (p = 0.0001). Using a logistic regression analysis a positive correlation was found between endoscopic severity of reflux disease and apnea-hypopnea index (p = 0.016). 49.5% of all patients experienced the typical symptoms of reflux disease at least three times a week and there was not significant difference between groups. CONCLUSION: The study reveals that in patients with severe obstructive sleep apnea, erosive reflux disease is more frequent and a positive correlation can be found between severity of reflux disease and sleep apnea as well.