Iranian Journal of Pediatrics最新文献

{"title":"Diagnostic Performance of the Monocyte/High-Density Lipoprotein Cholesterol (HDL-C) Ratio for Pediatric Metabolic Associated Fatty Liver Disease in Children and Adolescents with Obesity","authors":"Yavuz Ozer, Dilek Bingol Aydın","doi":"10.5812/ijp-145607","DOIUrl":"https://doi.org/10.5812/ijp-145607","url":null,"abstract":"Background: The escalating prevalence of childhood obesity has rendered pediatric metabolic-associated fatty liver disease (MAFLD) one of the foremost health concerns. Objectives: This investigation aims to examine the relationship between MAFLD and the monocyte-to-high-density lipoprotein cholesterol ratio (MHR) in children and adolescents with obesity. Methods: In this retrospective study, we conducted a comparative analysis of MHR values for MAFLD and non-MAFLD cases in children and adolescents with obesity, aged 6 - 18, from 1 October, 2022 to 30 September 2023. To determine the prognostic value of MHR in relation to MAFLD, we implemented ROC analysis. Additionally, logistic regression analysis was utilized to examine the association between each variable and MAFLD. Results: A total of 211 children diagnosed with obesity (67 boys and 144 girls) were included in the study, comprising 121 MAFLD patients and 90 simple obesity controls. The monocyte/HDL-C ratio was significantly higher in the MAFLD group compared to the simple obesity group (0.56 ± 0.19 vs. 0.46 ± 0.14, P < 0.001). There was a positive correlation between MHR and fasting insulin, HOMA-IR, TG/HDL-C, TyG, triglyceride levels, and the grade of hepatosteatosis (P = 0.011, r = 0.184; P = 0.029, r = 0.159; P < 0.001, r = 0.374; P = 0.005, r = 0.203; P < 0.001, r = 0.257; P < 0.001, r = 0.272, respectively). The ROC curve analysis revealed that the cut-off value for MHR to predict MAFLD was 0.43 (× 109/mmol), with a sensitivity of 75.45% and a specificity of 46.34%. The area under the curve for MHR in distinguishing children with MAFLD from those without was 0.656 (P = 0.002). Logistic regression analysis indicated that male gender (OR: 3.825; P = 0.001), high ALT (OR: 1.035; P = 0.025), and high MHR (OR: 16.166; P = 0.025) had significant positive associations with the presence of MAFLD. Conclusions: We established a correlation between MHR and MAFLD in children and adolescents with obesity. High MHR was significantly related to the risk of MAFLD. The monocyte/HDL-C ratio, a noninvasive marker, may be used as an inflammatory biomarker in predicting MAFLD.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141797342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing the Prevalence of Lead Toxicity and Related Factors in Pediatric Patients with Abdominal Pain","authors":"Abbas Avazpour, Farrokhnaz Abbasian, Amir Hossein Hassani, Sara Matin","doi":"10.5812/ijp-148170","DOIUrl":"https://doi.org/10.5812/ijp-148170","url":null,"abstract":"Background: Lead toxicity is an environmental disease that has been encountered since ancient times and can present with symptoms such as abdominal pain, constipation, or neurological deficits. This issue accounts for the highest burden among environmental disorders. Objectives: The aim of this study was to assess the prevalence of lead toxicity in patients with abdominal pain in Southern Iran. Methods: In this study, 50 pediatric patients with chronic abdominal pain and 50 healthy individuals were compared in terms of their blood lead levels and underlying demographic information that could contribute to lead toxicity. Results: A total of 100 participants were enrolled in this study, with a mean age of 8.50 ± 2.444 years, 53.0% of whom were male. The mean blood lead levels in the control and case groups were 1.54 ± 0.693 and 2.73 ± 2.547 µg/dL, respectively, with a statistically significant difference (P = 0.002). When cutoff values of 2 µg/dL and 3.5 µg/dL were considered for lead toxicity, the prevalence of lead toxicity was significantly higher in the case group. Environmental and demographic factors did not differ between patients with lead toxicity and those with normal lead levels (P > 0.05). Conclusions: The prevalence of lead toxicity in children complaining of chronic abdominal pain was 12.0% (95% CI: 4.5% - 24.3%). However, more accurate testing of the environment is needed in future studies.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141808188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Can SMA Innovative Treatments Be Reimbursed? A Rapid Review","authors":"Fateme Yaftian, M. Mobinizadeh, A. Olyaeemanesh, E. Mohamadi, Farhad Habibi","doi":"10.5812/ijp-145056","DOIUrl":"https://doi.org/10.5812/ijp-145056","url":null,"abstract":"Context: Spinal muscular atrophy (SMA) is a rare genetic disorder that significantly impacts the quality of life. This paper aims to gather current understanding of the safety, efficacy, and economic aspects of common SMA treatments to assist Iranian policymakers in adopting these novel treatments for this vulnerable population. Methods: This rapid health technology assessment (HTA) research was conducted in four steps: Database review, screening, data extraction, and thematic analysis. Inclusion criteria consisted of studies focused on assessing the safety, efficacy, and economic aspects of medical interventions in SMA patients compared to those who did not receive such interventions. Results: Based on current data, nusinersen was found to be the most effective treatment (increasing mobility achievements in SMA types 1 and 2) with the least side effects for SMA types 1 and 2. In terms of economic evaluations, none of the treatments were found to be cost-effective. Conclusions: The decision regarding reimbursement for such medical drugs should not focus solely on their cost-effectiveness but rather on creating access to essential care, meeting patient needs, and considering national budget limitations. Managed entry agreements (MEAs) are flexible tools that service providers or payers can use to negotiate and reduce the financial burden for both patients and payers.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141808736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating the Efficacy and Safety of Perirectal Sclerotherapy with 50% Dextrose Injection as a Primary Surgical Procedure for Rectal Prolapse in Pediatric Patients: A Clinical Trial","authors":"Davoud Badebarin, S. Aslanabadi, Ebrahim Farhadi, Hamed Danaie, Sahand Eslami","doi":"10.5812/ijp-148031","DOIUrl":"https://doi.org/10.5812/ijp-148031","url":null,"abstract":"Background: Rectal prolapse is a condition where the rectum protrudes through the anus. This study aimed to evaluate the effectiveness of perirectal sclerotherapy using a 50% dextrose injection as a primary surgical procedure for rectal prolapse in children under 14 years of age. Objectives: The purpose of the study was to evaluate the efficacy, safety, and advantages of perirectal sclerotherapy using a 50% dextrose injection as a primary surgical procedure for rectal prolapse in pediatric patients. Methods: This clinical trial involved 40 patients diagnosed with rectal prolapse, who were treated with perirectal sclerosant (dextrose 50%) injection. All patients had grade III or grade IV rectal prolapse. Three injections of 50% dextrose were administered into the area around the anus and the submucosa, 2 - 3 cm above the dentate line, while the patient was in the lithotomy position. Injections were given at the 3, 6, and 9 o'clock positions around the anus (1 cc/kg at the 6 o'clock position and 0.5 cc/kg at the 3 and 9 o'clock positions). The patients were followed up for recurrence and complications at three-month and six-month intervals, respectively. Results: The patients had an average age of 5.62 years, with the majority being male (77.5%). The average time between symptom onset and sclerotherapy administration was 6.60 ± 1.73 months. Five patients experienced edema around the anus and injection site on the first day of observation. At the second examination (one week later), only one patient had cellulitis. At the three-month visit, eight patients exhibited symptoms of rectal mucus discharge, which were considered mid-term complications. In the final examination at six months, four patients experienced prolapse recurrences. Conclusions: Based on the findings, it can be concluded that perirectal sclerotherapy using a 50% dextrose injection is an effective primary surgical procedure for rectal prolapse in children under 14 years of age. The treatment is simple, inexpensive, and associated with minimal risk of complications and short recovery times compared to open surgery.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141815693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Allergic Alveoli's: The Lung's Immune Paradox in Hypersensitive Pneumonitis (EAA/HP)","authors":"Mohammad Shiravi Khouzani, Krishnaveni Kandasamy","doi":"10.5812/ijp-137727","DOIUrl":"https://doi.org/10.5812/ijp-137727","url":null,"abstract":": Allergic alveolitis/hypersensitive pneumonitis (EAA/HP) in its acute phase and allergic asthma in the chronic phase can be triggered by pigeon allergies. These allergies induce an immune response marked by elevated immunoglobulin E (IgE) levels, which block FCER-1 receptors on mast cells. This blockage prevents the release of histamine, leukotrienes C4, and prostaglandin D4, responsible for smooth muscle contraction and vascular leakage. Additionally, IgE can block FceRI receptors on basophils, forming IgE-FC complexes and stimulating CD23 and HEK-293 cells, while also increasing lung alveolar inflammation. Combining Cε2 with omalizumab can lower free IgE levels and block FceRI and CD23. Chronic pigeon allergies can be managed with treatments such as monoclonal antibodies, inhaled corticosteroids (ICS), and Cromolyn, either alone or in combination. Monoclonal antibodies target molecules that trigger allergic reactions, reducing symptoms. Inhaled corticosteroids help control airway inflammation and sensitivity, easing respiratory issues. Cromolyn, available as nasal sprays or eye drops, prevents the release of inflammatory substances, reducing symptoms like sneezing and itching. Combining these treatments can improve symptom management by addressing different aspects of the allergic reaction. Moreover, treatments targeting the thymic stromal lymphopoietin (TSLP) pathway are showing promise for reducing skin inflammation in conditions like atopic dermatitis (AD). It is crucial to consult a healthcare professional to determine the most appropriate treatment plan.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141651743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of Clinical Features and Outcomes of Shocks in Multisystem Inflammatory Syndrome in Children Associated with COVID-19 (MIS-C), Septic Shock, and Cardiogenic Shock","authors":"Kantimas Sitthikool, Pimchanok Junsawat","doi":"10.5812/ijp-145347","DOIUrl":"https://doi.org/10.5812/ijp-145347","url":null,"abstract":"Background: Multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C) is an inflammatory disorder that shares similarities with Kawasaki disease and toxic shock syndrome. The majority of MIS-C patients exhibit cardiovascular abnormalities, with cardiogenic and vasodilatory shock occurring in 60% of cases. Objectives: To determine the differences between MIS-C shock, septic shock, and cardiogenic shock. Methods: This retrospective observational study was conducted between January 2021 and December 2022. The study included children aged between 1 month and 15 years with MIS-C shock, septic shock, and cardiogenic shock. Patients’ medical records were reviewed, including clinical presentations, laboratory results, treatments, and outcomes. Results: The study included 60 patients: 13 (22%) with MIS-C shock, 33 (55%) with septic shock, and 14 (23%) with cardiogenic shock. Compared to septic shock and cardiogenic shock, MIS-C patients were more likely to present with a rash (P < 0.001). Multisystem inflammatory syndrome in children shock patients had significantly lower lymphocyte counts (P = 0.001). Chest radiograph and echocardiography abnormalities were more common in MIS-C shock and cardiogenic shock patients than in septic shock patients (P = 0.004). USCOM results indicated that MIS-C shock patients displayed a combination of a decreased inotropic index and systemic Vascular Resistance Index. Conclusions: The most distinct clinical feature of MIS-C shock is a cutaneous manifestation combined with higher levels of inflammation and a decreased lymphocyte count, caused by vasodilation and myocardial dysfunction.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141651788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association Between Maternal Copper/Zinc Intake and the Risk of Preterm Birth","authors":"Wenli Huang, Jingyan Wang, Shuyu Ding, Yuqing Li, Lu Fang, Wen Luo, Zhijin Li, Baohong Mao","doi":"10.5812/ijp-145250","DOIUrl":"https://doi.org/10.5812/ijp-145250","url":null,"abstract":"Background: The relationship between maternal copper and zinc intake and the risk of preterm birth is unclear Objectives: This study was designed to investigate the effects of daily copper and zinc intake before and during pregnancy on the risk of preterm birth and to assess whether there is an interaction between copper and zinc intake and the risk of preterm birth Methods: A nested case - control study was conducted in Lanzhou, involving 880 cases and 8017 controls. Eligible participants were interviewed about their diet and characteristics during pregnancy. Unconditional logistic regression was used to determine the association between dietary copper and zinc intake and the risk of preterm birth, including its clinical subtypes. A multivariate adjusted restricted cubic spline (RCS) model was used to investigate the nonlinear relationship between dietary copper and zinc intake and the risk of preterm birth. Results: The study revealed that compared to pregnant women with the highest dietary copper intake before and during pregnancy, those with copper intake in the lower three quartiles (quartiles 1, 2, and 3) had increased risks of preterm birth, with adjusted odds ratios (ORs) of 1.05 (0.96 - 1.14), 1.05 (0.93 - 1.18), and 1.04 (0.82 - 1.32), respectively. The trend test yielded significant results (P = 0.013), particularly in late pregnancy, indicating an association between lower copper intake and increased risks of preterm and spontaneous preterm birth. Maternal dietary zinc intake during pregnancy was positively associated with the risk of preterm birth. The adjusted ORs for quartile 2 compared to quartile 4 were 1.29 (1.09 - 1.52), 1.55 (1.13 - 2.12), and 1.20 (1.00 - 1.46) throughout pregnancy, indicating significantly increased risks in the mid to late stages of pregnancy. No significant association was found between zinc intake and medically induced preterm birth. Zinc intake below the nutritional reference value in late pregnancy was significantly associated with an increased risk of preterm birth (P < 0.05). A nonlinear relationship was observed between copper/zinc intake and the risk of preterm birth (P Nonlinear < 0.05). A synergistic effect of low copper and zinc intake on the risk of preterm birth was found (OR: 2.23, 95% CI: 1.64 - 3.04, P < 0.001). Conclusions: Efforts to promote adequate copper and zinc intake before and during pregnancy need to be intensified to reduce the incidence of preterm birth.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141666019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute Renal Failure in the Pediatric Intensive Care Unit: Incidence and Its Effects on Clinical Outcomes","authors":"Zahra Pournasiri, Seyedeh Masumeh Hashemi, Seyedeh Narjes Ahmadizadeh, Azita Behzad, N. Esfandiar, Ali Hakimhashemi","doi":"10.5812/ijp-143669","DOIUrl":"https://doi.org/10.5812/ijp-143669","url":null,"abstract":"Background: Renal dysfunction is a prevalent complication among patients admitted to intensive care units (ICUs), significantly impacting patient outcomes. Objectives: This study focuses on assessing the incidence of acute renal failure (ARF) in pediatric patients hospitalized in ICUs, exploring its occurrence and associated effects on patient outcomes. Methods: A prospective observational study was conducted to examine the incidence of ARF in pediatric patients admitted to a tertiary pediatric hospital's intensive care unit (PICU) in Iran from September 2019 to August 2020. Patients who developed ARF during their ICU stay were included in the study. Clinical and laboratory data were systematically collected upon admission and on a daily basis thereafter. This data collection aimed to elucidate differences in etiology, disease severity, and clinical practices, and to ascertain their impact on patient outcomes. Results: Out of 1145 pediatric ICU admissions, 4.3% experienced acute renal failure during their hospitalization. Of the 49 affected patients, information was available for 46 individuals, constituting the final analysis cohort. The staging of renal failure was categorized as follows: Stage I (45.7%), Stage II (19.6%), and Stage III (34.8%). Acute tubular necrosis emerged as the predominant cause of acute kidney injury (60.8%). The mortality rate among these patients was notably high at 39.1%, compared to the general PICU mortality rate of 7.1% during the study period. Non-survivors exhibited a higher prevalence of antibiotic use, particularly aminoglycosides and antifungal drugs. Additionally, resuscitation procedures were more frequently documented among non-survivors. Conclusions: Approximately 4.3% of pediatric ICU patients develop acute renal failure, with half of the cases manifesting within the initial 24 hours of hospitalization. Acute tubular necrosis stands out as the primary cause of acute kidney injury. A substantial proportion of patients (39.1%) succumb to the condition, particularly those subjected to resuscitation efforts or prescribed multiple antibiotics and antifungal drugs during hospitalization.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2024-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141670284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early Detection of Anterior Segment Visual Complications in Pediatrics with Type 1 Diabetes Mellitus","authors":"Mohammad hosein Validad Validad, Maryam Nakhaey, Ilia Mirzaei, Abolfazl Parsi-Moud, Mahdi Kankashian, Niloufar Hosseini Razavi","doi":"10.5812/ijp-143040","DOIUrl":"https://doi.org/10.5812/ijp-143040","url":null,"abstract":"Background: Evaluation of the Prevalence and Types of Ocular Complications in Children and Adolescents with Type 1 Diabetes Mellitus (T1DM) Methods: In this cross-sectional study, 76 previously diagnosed diabetic children were selected. The patients' T1DM was monitored using glycated hemoglobin (HbA1C), and an ophthalmologist conducted anterior corneal examinations. Visual acuity levels were assessed by an optometrist. Pupillary dilation was achieved using 1% Tropicamide ophthalmic drops prior to the slit-lamp examination of the anterior segment of both eyes. Results: With an average age of 12.04 ± 3.7 years and average HbA1C levels of 10.24 ± 2.47%, the most common visual complication observed was posterior capsule opacification in 19 patients (24.9%). This was followed by refractive errors (10.5%), amblyopia (2.7%), pseudophakia, and cataract (1.4% for each). A total of 27 patients (35.5%) exhibited visual complications. Age and the duration of diabetes were significantly associated with the overall presence of visual complications and posterior capsular opacification, but not significantly related to other types of ocular complications. Conclusions: Given the prevalence and distribution of visual complications in T1DM, particularly posterior capsule opacification, we suggest a routine screening examination of the anterior segment of the eye in these patients.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141366070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic and Clinical Manifestations of Familial Mediterranean Fever in Children from the Central North of Iran","authors":"Shohreh Maleknejad, A. Shabani, A. Safaei Asl, Aye Miremarati, Parto Safaei-Asl, Afagh Hassanzadeh Rad","doi":"10.5812/ijp-146276","DOIUrl":"https://doi.org/10.5812/ijp-146276","url":null,"abstract":"Background: Familial Mediterranean fever (FMF) is one of the most common monogenic autoinflammatory diseases in the Middle East. The disease is characterized by recurrent attacks of fever and serositis, and the clinical presentation varies across different ages, ethnicities, and genotypes. Objectives: In this study, we determined the types of gene mutations in patients with FMF and their relationship with clinical symptoms in the Central North of Iran. Methods: This was an analytical cross-sectional study conducted on all patients with FMF who were referred to 17 Shahrivar Hospital in Rasht. Demographic information, clinical data, and genetic test results were collected. Results: The mean age of patients at the onset of symptoms was 3.57 ± 2.79 years. In this study, 62.5% of patients were male and 37.5% were female. The most common clinical symptoms were fever, abdominal pain, nausea, vomiting, chest pain, joint pain, headache, and diarrhea, respectively. In genetic studies, 12.50% of patients were homozygous, 47.50% were compound heterozygous, 20% were heterozygous, 2.50% had complex genotypes, and 17.50% had no mutation. The most common gene mutations were R761H, M694V, E148Q, and M680I alleles, respectively. Conclusions: In our study, we found different clinical and genetic patterns in patients with Familial Mediterranean fever. These results highlight the importance of conducting further studies in different regions to help clinicians manage their patients accurately.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2024-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141368320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}