Faculty of Medicine

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Author: search.filters.author.Arsov, TodorHas files: No

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    Nephrotic Syndrome Induced by Tiopronin in a Male Patient with Cystinuria.
    (Macedonian Academy of Sciences and Arts, 2025-06)
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    Severova Stojanoska, Ana
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    Gjorgjievska, Julija
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    Cystinuria is a rare, lifelong, autosomal recessive disorder characterized by high urine cystine excretion, leading to chronic and recurrent kidney stone formation. This inherited metabolic disorder occurs due to defective cystine, lysine, ornithine, and arginine reabsorption in the brush border membrane of the proximal renal tubule (S3 segment) and the gastrointestinal epithelial cells. Tiopronin is a thiol agent used in the treatment of severe homozygous cystinuria in patients who are resistant to conservative measures. We report an 18-year-old male with cystinuria confirmed by genetic testing, who was treated with conservative measures such as high fluid intake, low sodium diet, and oral potassium citrate since the diagnosis was made at four years of age. However, due to the recurrence of several calculi in both kidneys, tiopronin treatment was initiated at the dose of 250 mg three times a day. After three months of therapy, the patient developed nephrotic syndrome with proteinuria of 6.6 g/l, hypoproteinemia, hyperlipidemia, and edema. Considering the adverse effect of tiopronin, the drug was immediately withdrawn and the patient was managed with human albumin substitution, diuretics, and angiotensin receptor blocker, without corticosteroids. Complete clinical and biochemical remission was achieved within 7 days. Clinicians should be aware of this rare but serious adverse effect of tiopronin, and monitor patients receiving tiopronin carefully for the possible occurrence of edema, proteinuria, with the aim of timely intervention and tiopronin discontinuation.
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    Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant
    (Walter de Gruyter GmbH, 2023-05)
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    Spasovska, T
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    Muaremoska-Kanzoska, Ljelja
    Holoprosencephaly (HPE) is the most common embryonic forebrain developmental anomaly. It involves incomplete or absent division of the prosencephalon into two distinct cerebral hemispheres during the early stages of organogenesis. HPE is etiologically heterogeneous, and its clinical presentation is very variable. We report a case of a 7 month old female infant, diagnosed with non-syndromic semilobar holoprosencephaly, caused by a novel, de novo pathogenic variant in ZIC2 - one of the most commonly mutated genes in non-syndromic HPE coding for the ZIC2 transcription factor. The patient presented with microcephaly, mild facial dysmorphic features, central hypotonia and spasticity on all four extremities. Ultrasound imaging demonstrated the absence of septum pellucidum, semilobar fusion of the hemispheres and mega cisterna magna and brain MRI with confirmed the diagnosis of HPE. Early diagnosis and management are important for the prevention and treatment of complications associated with this condition.
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    Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis
    (Frontiers Media SA, 2024)
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    Arsov, Todor
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    Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. Reduced or absent enzyme activity causes progressive lysosomal accumulation of globotriaosylceramide (Lyso-Gb3) in various cells throughout the body to trigger inflammation and fibrosis.
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    TYPE OF CYP450 2C19 GENE METABOLIZERS IN PATIENTS UNDERGOING PERCUTANEOUS CORONARY INTERVENTION IN THE REPUBLIC OF NORTH MACEDONIA -A PILOT STUDY
    (University Ss. Cyril and Methodius in Skopje, 2022)
    Savevska, Tamara
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    Stamatovska, Kristina
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    Otljanska, Magdalena
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    Arnaudova, Frosina
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    Association of 22 cytokine gene polymorphisms with tuberculosis in Macedonians
    (2009-07)
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    Trajchevska, Mirjana
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    Arsov, Todor
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    Strezova, Ana
    To examine the possible role of 22 cytokine gene polymorphisms in host susceptibility to or protection against tuberculosis (TB) in Macedonians.
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    Methylenetetrahydrofolate reductase (MTHFR-677 and MTHFR-1298) genotypes and haplotypes and plasma homocysteine levels in patients with occlusive artery disease and deep venous thrombosis
    (Panstwowe Wydawnictwo Naukowe, 2008)
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    Antov, Slobodan
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    Arsov, Todor
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    Dzhekova-Stojkova, Sloboda
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    The aim was to investigate different genotypes and haplotypes of methylenetetrahydrofolate reductase (MTHFR-677, -1298) and plasma concentration of total homocysteine (tHcy) in Macedonian patients with occlusive artery disease (OAD) and deep venous thrombosis (DVT). Investigated groups consists of 80 healthy, 74 patients with OAD, and 63 patients with DVT. Plasma tHcy was measured with Microplate Enzyme Immunoassay. Identification of MTHFR genotypes and haplotypes was done with CVD StripAssay. The probability level (P-value) was evaluated by the Student's t-test. Plasma concentration of tHcy in CC and CT genotypes of MTHFR C677T was significantly increased in patients with OAD and in patients with DVT. Plasma concentration of tHcy in AC genotype of MTHFR A1298C was increased in patients with OAD and in patients with DVT. Plasma concentration of tHcy was significantly increased in AA genotype of patients with OAD, but not in patients with DVT. We found a significant increase of plasma tHcy in patients with OAD in comparison with healthy respondents for normal:heterozygote (CC:AC), heterozygote:normal (CT:AA), and heterozygote:heterozygote (CT:AC) haplotypes. Plasma concentration of tHcy in patients with DVT in comparison with healthy respondents was significantly increased for normal:normal (CC:AA), normal heterozygote (CC:AC), and heterozygote:heterozygote (CT:AC) haplotypes. We conclude that MTHFR C677T and MTHFR A1289C genotypes and haplotypes are connected with tHcy plasma levels in Macedonian patients with OAD and DVT.
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    Cytokine gene polymorphisms in population of ethnic Macedonians
    (2005-08)
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    Arsov, Todor
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    Strezova, Ana
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    Efinska-Mladenovska, Olivija
    To genotype cytokine polymorphisms in the Macedonian population as a part of the international project Cytokine Polymorphism Component (CPC).