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1.
Turk Arch Pediatr ; 59(1): 43-48, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38454259

RESUMO

OBJECTIVE: We aimed to evaluate the clinical significance of the "unclassified" blood pressure phenotypes on left ventricular hypertrophy in children. MATERIALS AND METHODS: All children evaluated with ambulatory blood pressure monitoring in the pediatric nephrology department between October 2018 and January 2021 were included in the study. Prehypertension, normotensive, white coat hypertension, masked hypertension, ambulatory hypertension groups and 2 other groups including increased blood pressure load, normal ambulatory blood pressure measurements, but normal (unclassified group 1) or high (unclassified group 2) office blood pressure measurements were defined according to the American Heart Association 2014 statement. Left ventricular mass index, left ventricular mass index/95 percentile values, and left ventricular hypertrophy ratios were compared between the groups separately to establish the influence of the unclassified cases. RESULTS: A total of 497 children were included. There were 52 cases in normotensive, 47 cases in unclassified group 1, 50 cases in masked hypertension, 79 cases in white coat hypertension, 104 cases in unclassified group 2, and 165 cases in the ambulatory hypertension group. Left ventricular mass index/95 percentile and left ventricular hypertrophy in masked hypertension were significantly higher than normotensive but similar between normotensive and unclassified group 1 groups. Left ventricular hypertrophy was significantly higher in the ambulatory hypertension group compared to white coat hypertension, and similar between white coat hypertension and unclassified group 2 groups. CONCLUSION: Independent of age, we have found that interpretation of blood pressure load not only has a limited predictable effect on left ventricular hypertrophy but also causes a large group of patients to be unclassified. Cite this article as: Kasap-Demir B, Basaran C, Demircan T, et al. The effect of "unclassified" blood pressure phenotypes on left ventricular hypertrophy. Turk Arch Pediatr. 2024;59(1):43-48.

2.
J Clin Res Pediatr Endocrinol ; 15(4): 397-405, 2023 11 22.
Artigo em Inglês | MEDLINE | ID: mdl-37470253

RESUMO

Objective: To compare pulse wave analysis (PWA) of obese children with and without metabolic syndrome (MS) with healthy, non-obese children and to evaluate the association between PWA findings and additional risk factors present in children with MS and obesity. Methods: From the obese patients examined between June 2019 and June 2021, 41 patients with MS, 36 obese patients without MS, and 34 healthy non-obese children of similar age and gender were evaluated retrospectively. Anthropometric measurements, biochemical evaluation, 24-hour ambulatory blood pressure (BP) measurement (ABPM), left ventricular mass index (LVMI) and PWA measurements were compared. Results: When the three groups were compared, weight standard deviation score (SDS), height SDS and body mass index SDS were all significantly higher in the MS group (p<0.05). The following measurements were significantly higher in both MS and non-MS obese patients compared to the control group: from ABPM measures, the systolic and mean arterial pressure BP SDSs load; from PWA, the night central systolic BP, 24-hour, day and night pulse pressure values and 24-hour, day and night pulse wave velocity (PWV) rates; and from cardiac evaluations, the LVMI and relative wall thickness measurements (all p<0.05). Furthermore, the 24-hour and daytime central systolic (cSBP) and diastolic BP (cDBP) values were significantly different between the three groups, being the highest in the MS group (p<0.05). Conclusion: Obesity causes higher office, ambulatory and central BP, PWV and LVMI. However our results suggest that additional risk factors associated with MS do not contribute to these parameters, except for 24-hour and daytime cSBP and cDBP values.


Assuntos
Hipertensão , Síndrome Metabólica , Obesidade Infantil , Rigidez Vascular , Humanos , Criança , Síndrome Metabólica/complicações , Obesidade Infantil/complicações , Monitorização Ambulatorial da Pressão Arterial , Estudos Retrospectivos , Análise de Onda de Pulso/efeitos adversos , Pressão Sanguínea/fisiologia , Hipertensão/etiologia , Rigidez Vascular/fisiologia
3.
Pediatr Nephrol ; 38(10): 3359-3367, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37140711

RESUMO

BACKGROUND: Ventricular repolarization (VR) increases the risk of sudden cardiac death due to ventricular arrhythmia. We aimed to evaluate the blood pressure (BP) parameters affecting VR in obese children. METHODS: Obese (BMI ≥ 95p) and healthy children ≥ 120 cm between January 2017 and June 2019 were included. Demographic and laboratory data, peripheral and central BPs evaluated by a device capable of ambulatory blood pressure monitoring (ABPM), and pulse wave analysis were assessed. Electrocardiographic ventricular repolarization indices, left ventricular mass index (LVMI), and relative wall thickness (RWT) were calculated. RESULTS: A total of 52 obese and 41 control patients were included. Uric acid, triglyceride, total cholesterol, LDL, and ALT values, systolic and diastolic office BPs, 24-h, daytime and nighttime systolic and mean arterial BPs, daytime diastolic BP SDS levels, daytime and nighttime systolic loads, daytime diastolic load, 24-h, daytime and nighttime central systolic and diastolic BPs, and pulse wave velocity values were significantly higher, whereas 24-h, daytime and nighttime AIx@75 were similar between the groups. fT4 levels of obese cases were significantly lower. QTcd and Tp-ed were higher in obese patients. Although RWT was higher in obese cases, LVMI values and cardiac geometry classifications were similar. The independent factors affecting VR in obese cases were younger age and higher diastolic load at night (B = - 2.83, p = 0.010; B = 0.257, p = 0.007, respectively). CONCLUSION: Obese patients have higher peripheral and central BP, arterial stiffness, and higher VR indices that develop before an increase in LVMI. It would be useful to prevent obesity from an early age and follow up nighttime diastolic load to control VR associated sudden cardiac death in obese children. A higher resolution version of the Graphical abstract is available as Supplementary information.


Assuntos
Hipertensão , Obesidade Infantil , Humanos , Criança , Pressão Sanguínea/fisiologia , Monitorização Ambulatorial da Pressão Arterial , Obesidade Infantil/complicações , Análise de Onda de Pulso , Hipertrofia Ventricular Esquerda
4.
Indian J Pediatr ; 90(7): 677-682, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35727527

RESUMO

OBJECTIVE: To evaluate the effects of non-E. coli or extended-spectrum ß-lactamase-positive (ESBL-positive) microorganism growth in the first febrile urinary tract infection (UTI) of infants on laboratory findings or renal parenchymal damage presenting the severity of inflammation, anatomic abnormalities defined by imaging studies, and recurrent UTIs in the follow-up period. METHODS: The data of patients aged between 2 and 24 mo and followed up for at least 6 mo with febrile UTI guideline of the authors' pediatric-nephrology clinic, were retrospectively analyzed. Ultrasonography was performed in all the cases at the time of UTI and dimercaptosuccinic-acid (DMSA) at least 4 mo after the infection. Voiding cystourethrography (VCUG) was performed only if ultrasonography findings were abnormal, the uptake deformity was detected in DMSA scan, or the patients experienced recurrent UTIs. The patients were grouped concerning E. coli or non-E. coli and ESBL-PB or non-ESBL-BP growth in the urine cultures. RESULTS: There were 277 infants followed up for 28.55 ± 15.24 (6-86) mo. The causative microorganisms were non-E. coli in 73 (26.4%) and ESBL-PB in 58 (20.9%) cases. CRP values, pyuria, and leukocyte-esterase positivity were significantly higher in UTIs caused by E. coli compared to non-E. coli bacteria. All clinical and laboratory findings were similar between the ESBL-PB and non-ESBL groups, but abnormal ultrasonography findings were more common in non-E. coli group. CONCLUSION: E. coli causes more severe inflammation, but non-E. coli infections are more frequently associated with ultrasound abnormalities. However, ESBL production did not affect either laboratory or radiological findings in the present cohort.


Assuntos
Infecções por Escherichia coli , Infecções Urinárias , Criança , Humanos , Lactente , Pré-Escolar , Adolescente , Adulto Jovem , Adulto , Infecções por Escherichia coli/tratamento farmacológico , Infecções por Escherichia coli/microbiologia , Escherichia coli , Estudos Retrospectivos , Seguimentos , beta-Lactamases/farmacologia , Infecções Urinárias/microbiologia , Inflamação , Antibacterianos/uso terapêutico , Fatores de Risco
5.
Exp Clin Transplant ; 21(1): 28-35, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-33535941

RESUMO

OBJECTIVES: Renal transplant recipients are at risk for ventricular arrhythmia and sudden death. To assess that risk, we compared the ventricular repolarization markers of pediatric renal transplant recipients with those of healthy children. MATERIALS AND METHODS: We included 30 children and adolescents who were followed for at least 6 months after renal transplant; 30 age- and sex-matched children were included for the control group. Demographic features, medications, and laboratory findings were recorded. Blood pressure measurements, ventricular repolarization indexes including QT dispersion, corrected QT dispersion, T-wave peak-to-end interval dispersion, the T-wave peak-to-end interval∕QT ratio, the T-wave peak-to-end interval∕corrected QT ratio, left ventricular mass index, and relative wall thickness were compared between groups. In addition, the correlations of ventricular repolarization indexes with other variables were evaluated. RESULTS: Blood pressure standard deviation scores, the mean heart rate, QT dispersion, corrected QT dispersion, the T-wave peak-to-end interval∕QT ratio, the T-wave peak-to-end interval/corrected QT ratio, left ventricular mass index, and relative wall thickness values were significantly higher in renal transplant patients, whereas T-wave peak-to-end interval dispersion, ejection fraction, and fractional shortening were similar between groups. Although ventricular repolarization indexes were similar in patients with and without left ventricular hypertrophy, only corrected QT dispersion was significantly higher in patients with hypertension (P = .006). The only variable that significantly predicted prolonged corrected QT dispersion was the systolic blood pressure standard deviation score (P = .005, ß = .403). CONCLUSIONS: Ventricular repolarization anomalies, hypertension, left ventricular hypertrophy, and cardiac geometry irregularity may be observed after renal transplant in pediatric recipients despite acceptable allograft functions and normal serum electrolyte levels. Control of systolic blood pressure would decrease the risk of ventricular repolarization abnormalities, namely, the corrected QT dispersion. Follow-up of cardiovascular risks with noninvasive methods is recommended in all pediatric renal transplant recipients.


Assuntos
Hipertensão , Transplante de Rim , Humanos , Criança , Adolescente , Eletrocardiografia , Hipertrofia Ventricular Esquerda/diagnóstico , Hipertrofia Ventricular Esquerda/etiologia , Transplante de Rim/efeitos adversos , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/etiologia , Hipertensão/diagnóstico , Hipertensão/etiologia , Medição de Risco
6.
Pediatr Rep ; 14(4): 533-537, 2022 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-36548205

RESUMO

Aim: The presence and clinical importance of vesicoureteric reflux in patients with a double collecting system are being questioned. Therefore, the role of voiding cystourethrography in the management of patients with ureterocele is unclear. This study aimed to evaluate patients with a ureterocele in terms of urinary tract infection (UTI) and vesicoureteral reflux (VUR). Material Methods: The cases who were admitted to the Pediatric Nephrology Clinic of Health Sciences University Tepecik Training and Research Hospital between 2012 and 2022 and were diagnosed with ureterocele were evaluated retrospectively. Demographic, clinical, and laboratory data were obtained from file records. Results: All patients diagnosed with ureterocele and voiding cystourethrography (VCUG) were evaluated. A total of 24 (female 13 (54.2%)) children were included. The reasons for admission were antenatal hydronephrosis in 13 (54.2%) patients, UTI in 9 (37.5%) patients, and incidentally diagnosed ureterocele in 2 (8.3%) patients. Urinary tract infection was observed in 20 patients at admission, recurrent UTI in 21 patients at follow-up, preoperative pyelonephritis in 12 patients. VUR was found in 11 patients, and severe VUR (≥stage 3) was found in 9 patients. Ten patients had ipsilateral hydronephrosis, and 14 patients had a double collecting system. The presence of VUR was found to be associated with female gender, UTI at admission, and recurrent UTI at follow-up (p < 0.05). However, there was no difference between groups with or without VUR in terms of ipsilateral hydronephrosis, scar formation, and the need for surgery (p > 0.05). Conclusions: We could not demonstrate any criteria to select patients to receive VCUG; on the other hand, VUR did not cause more kidney damage. Our study supports the need for more scientific data to determine management in patients with ureterocele.

7.
Pediatr Int ; 64(1): e15323, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36331224

RESUMO

BACKGROUND: Patients with nephrotic syndrome (NS) are at a high risk of cardiovascular disease, obesity, and dyslipidemia. The aim of this study was to evaluate the formation of epicardial adipose tissue (EAT) and investigate electrocardiographic (ECG) parameters in patients. METHODS: Thirty-two patients aged 0-18 years and 15 control patients were compared. In the patient group, physical examination and laboratory parameters were recorded. Atrial depolarization and ventricular repolarization parameters in ECG were compared between the groups. EAT was evaluated with M-mode measurements on echocardiography. RESULTS: There was no difference between the groups in terms of sex, age, body mass index, systolic and diastolic BP. EAT was found to be significantly higher in the patient group. In ECG evaluations it was determined that atrial depolarization and ventricular repolarization parameters increased in the patient group. CONCLUSIONS: Cardiovascular morbidity and mortality are high in kidney diseases. Measurement and follow-up of EAT and ECG findings as a noninvasive parameter can provide information in NS.


Assuntos
Síndrome Nefrótica , Humanos , Síndrome Nefrótica/complicações , Síndrome Nefrótica/diagnóstico , Pericárdio/diagnóstico por imagem , Tecido Adiposo/diagnóstico por imagem , Ecocardiografia , Arritmias Cardíacas
8.
Hypertens Res ; 45(6): 1047-1057, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35365799

RESUMO

We aimed to evaluate the agreements between the guidelines used for both office blood pressure (OBP) and ambulatory blood pressure monitoring (ABPM). Our secondary aim was to define the best threshold to assess children at risk of left ventricular hypertrophy (LVH). Thresholds proposed by the Fourth Report (FR), European Society of Hypertension (ESH), and American Academy of Pediatrics (AAP) for OBP and the Wühl, ESH, and American Heart Association (AHA) for ABPM were used, and nine different BP phenotype combinations were created. The agreements between the thresholds, the sensitivity of the thresholds, and the BP phenotypes used to predict LVH were determined in 949 patients with different ages and body mass indices (BMIs). The agreements between the guidelines for OBP and ABPM were "good" and "very good" (κ = 0.639; 95% CI, 0.638-0.640, κ = 0.986; 95% CI, 0.985-0.988), respectively. To classify OBP and ABPM into BP phenotypes, we obtained nine different combinations, which had "very good" agreement (κ = 0.880; 95% CI, 0.879-0.880). The sensitivity of AAP for detecting LVH was the highest in <12-year-old obese children (S = 75.8, 95% CI, 56.4-89.7). The sensitivity of ABPM in detecting LVH was similar among different age and BMI groups. The sensitivity of different BP phenotypes tended to be higher in the groups where OBP was evaluated according to AAP. The highest sensitivity was detected in the 13- to 15-year-old normal weight group.(S: 88.8, 95% CI, 51.7-99.7). The AAP guideline is more sensitive and decisive for BP phenotypes to detect LVH, especially in normal-weight children ≤ 15 years, while ABPM thresholds for children have limited effect.


Assuntos
Hipertensão , Obesidade Infantil , Pressão Sanguínea , Monitorização Ambulatorial da Pressão Arterial , Criança , Humanos , Hipertrofia Ventricular Esquerda/complicações , Obesidade Infantil/complicações , Estados Unidos
13.
Pediatr Int ; 64(1): e14887, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34131997

RESUMO

BACKGROUND: Since the emergence and worldwide spread of the new coronavirus (COVID-19) pandemic, it has caused people to experience adverse psychological effects. This study aimed to assess anxiety levels during COVID-19 in children with chronic kidney disease (CKD), including nephrotic syndrome (NS) and kidney transplantation (Tx). METHODS: A case-controlled, cross-sectional study was conducted with children aged 10-18 years, who had a diagnosis of CKD or NS, or Tx, and followed in our center between April and July 2020. A healthy control group was recruited with age- and gender-matched children. A questionnaire with printed and online versions was designed in three parts: the first addressed demographic characteristics, the second addressed opinions about the pandemic, and the third was the Turkish version of the Revised Child Anxiety and Depression Scale - Child Version. RESULTS: A total of 88 children completed the questionnaire. The patient and control groups were similar in terms of gender, age, household members and history of psychiatric treatment. Both groups stated that coronavirus is a risky disease for children (63.6%), and that they were afraid of contagion (69.3%). Only half of them were receiving realistic and informative answers from family members. In the Revised Child Anxiety and Depression Scale - Child Version, 66% of them received a high score on at least one subscale. The social phobia scores of the control group were higher than those of the patient group, although the proportion of high scores was similar in both groups. The ratio of high-scored participants was higher in CKD patients for panic disorder, and was lower in the immunosuppressive agent group for social phobia. CONCLUSION: The current COVID-19 pandemic is a disaster that children encounter for the first time in their lives. It does not exclusively cause anxiety among children with chronic kidney diseases but also affects healthy children.


Assuntos
COVID-19 , Insuficiência Renal Crônica , Criança , Humanos , COVID-19/epidemiologia , Pandemias , Estudos Transversais , SARS-CoV-2 , Depressão/psicologia , Ansiedade/epidemiologia , Ansiedade/etiologia , Ansiedade/diagnóstico , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/epidemiologia
14.
J Trop Pediatr ; 69(1)2022 12 05.
Artigo em Inglês | MEDLINE | ID: mdl-36625359

RESUMO

AIM: Urinary tract infections (UTIs) represent a common febrile illness in infancy. The study compared two UTI guidelines in terms of number of imaging studies, presence of parenchymal damage and radiation exposure in patients with the first febrile UTI between 2 and 24 months of age. METHOD: The results of Tepecik UTI Guideline-1 used until 2012 (Group 1, n = 105) were retrospectively compared with Tepecik UTI Guideline-2 (Group 2) used after 2013. In Group 1, urinary tract ultrasonography (US), dimercaptosuccinic acid (DMSA) and voiding cystourethrography (VCUG) were made in all patients. In Group 2, if the US result was abnormal, patients were evaluated with VCUG and DMSA. If the US was normal, only DMSA was performed. If the DMSA was abnormal, the VCUG was undergone (n: 43, 40.9%). RESULTS: The abnormal VCUG detection rate was 69.2% in Group 1 and 30.8% in Group 2 (p = 0.09). Sensitivity and specificity of US in the diagnosis of vesicoureteral reflux (VUR) was 15.9% and 96.7% in Group 1 and 61.5% and 70.5% in Group 2, respectively. Abnormal DMSA findings were observed among 33.3% (Groups 1) and 66.7% (Groups 2) subjects, respectively (p > 0.05). The median radiation exposure (500 mrem) of patients in Group 1 was statistically significantly higher than those in Group 2 (200 mrem) (p < 0.001). CONCLUSION: The VCUG should not be the first examination to be considered in such patients. We think that Tepecik UTI Guideline-2 reduces unnecessary invasive procedure and radiation exposure and not missed VUR in the management of children with UTI at 2-24 months. Needs prospective follow-up studies before considering this recommendation.


Assuntos
Infecções Urinárias , Refluxo Vesicoureteral , Humanos , Criança , Lactente , Estudos Prospectivos , Estudos Retrospectivos , Infecções Urinárias/diagnóstico por imagem , Succímero , Refluxo Vesicoureteral/complicações , Refluxo Vesicoureteral/diagnóstico por imagem
17.
Pediatr Int ; 63(11): 1334-1338, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33548092

RESUMO

BACKGROUND: False negative or positive results may occur in the urine dipstick test for leukocyte esterase (LE), which is used to determine urinary tract infection (UTI). We aimed to investigate the clinical importance of the presence or absence of pyuria in urine sediment for diagnosing UTI in the presence of positive LE in dipstick analysis. METHODS: Patients admitted to the pediatric nephrology outpatient clinic with positive urine LE tests were divided into two groups: those without pyuria (Group 1) and those with pyuria (Group 2) in their urine sediment. Hospital files of the patients were evaluated retrospectively for demographic variables, lower or upper UTI symptoms, physical examination for phimosis and vulvovaginitis, urinalysis for LE and nitrite tests, urine sediment microscopy, urine culture, complete blood count and C-reactive protein. Both groups were compared for the significant growth of pathogenic bacteria in urine cultures along with clinical and laboratory parameters. RESULTS: Among 578 children giving samples for urinalysis, there were 287 cases with positive LE tests. Groups 1 and 2 included 123 and 164 cases, respectively. The proportion of girls was higher in Group 1 and vulvovaginitis rate was higher among the girls in Group 1. Girls with vulvovaginitis were mostly prepubertal. Upper UTI symptoms, significant pathogen growth rate, and elevated acute phase response were more common in Group 2. In addition, the phimosis rate was more common among the boys in Group 1 with false positive LE test. CONCLUSIONS: Children with positive LE tests without pyuria are mostly prepubertal girls and there is a high rate of vulvovaginitis in these girls. Unnecessary tests and treatments for UTI may be avoided with detailed history and physical examination in prepubertal girls who have a false positive LE test. We also found, for the first time, that a false positive LE test is significantly associated with phimosis in boys.


Assuntos
Hidrolases de Éster Carboxílico , Urinálise , Criança , Feminino , Humanos , Masculino , Estudos Retrospectivos , Sensibilidade e Especificidade
18.
J Clin Hypertens (Greenwich) ; 23(2): 245-252, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33387392

RESUMO

Patients with solitary kidneys (SKs) are at risk of hypertension (HT) and associated end-organ damage. The authors aimed to evaluate whether children with congenital SKs (CSKs) have higher office, ambulatory, or central blood pressure (BP), increased arterial stiffness or left ventricular mass index, or any risk for arrhythmia. With this purpose, patients with CSK and healthy controls being followed up between January 2018 and June 2019 were enrolled in the study. Demographic, biochemical, and office blood pressure (BP) data were recorded. Then, ambulatory blood pressure monitoring (ABPM) and measurements of central BP (cBP), pulse wave velocity (PWV), and augmentation index (AIx@75) were obtained. Ventricular repolarization parameters were acquired by 12-lead electrocardiography. Left ventricular mass index (LVMI) and abdominal aortic stiffness parameters including strain, pressure strain elastic modulus (Ep), and normalized Ep (Ep*) were calculated with echocardiographic measurements. Finally, 36 children with CSK and 36 healthy controls were included. Serum creatinine, uric acid, total cholesterol levels, ABPM parameters, cBP levels, and PWV values were significantly higher, and eGFR levels were significantly lower in the CSK group. VR parameters, abdominal aortic stiffness indices, and LVMI were similar between the groups. CSK increased the risk of HT in ABPM (HTABPM ) by 6 times. PWV was significantly correlated with Ep and Ep* in cases with CSK. Determination of cBP and PWV along with 24-hour ABPM would be a useful tool in children with CSK.


Assuntos
Doenças Cardiovasculares , Hipertensão , Rigidez Vascular , Adolescente , Pressão Sanguínea , Monitorização Ambulatorial da Pressão Arterial , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/etiologia , Criança , Fatores de Risco de Doenças Cardíacas , Humanos , Hipertensão/complicações , Hipertensão/diagnóstico , Hipertensão/epidemiologia , Rim , Análise de Onda de Pulso , Fatores de Risco
19.
Turk Arch Pediatr ; 56(6): 610-617, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35110061

RESUMO

AIM: This study aimed to present the demographic, clinical, and laboratory features of children clinically diagnosed with familial Mediterranean fever (FMF) and to predict more severe mutations by evaluating those findings. METHODS: We enrolled cases diagnosed with FMF with a defined variation in at least one allele. The medical charts of the patients were reviewed retrospectively. The patients were grouped as homozygous, compound heterozygous, and simple heterozygous cases, with and without M694V mutation. We compared the data between the subgroups using logistic regression analysis and determined the risk factors for being homozygous or compound heterozygous for M694V. RESULTS: A total of 263 (M/F =109/154) cases were included. The mean age at the onset of symptoms, follow-up duration, and time to diagnosis were 6.75 ± 3.9 (0.25-17) years, 51.78 ± 39.31 (6-166) months, and 9.23 ± 14.44 (1-132) months, respectively. The rates of parental consanguinity, positive family history for FMF, and FMF in a first-degree relative were 15%, 42%, and 31.4% respectively. The most common symptom was abdominal pain (85%). There was no difference between the growth parameters of the cases during the initial and final control periods. The most frequent alleles were M694V, E148Q, and V726A. The most common accompanying disease was IgA vasculitis (20%). Almost 90% of the cases fulfilled all the defined criteria. The rate of patients having a first-degree relative with FMF was higher, Hb values were lower, and the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) values were higher during the attack period; the ESR and CRP values were higher in the attack-free period; and Pras disease severity scores were higher in homozygous or compound heterozygous cases carrying M694V. The presence of FMF in a first-degree relative increases the probability of being homozygous and compound heterozygous for M694V by a factor of 2.39; and each 1 unit increase in the Pras score increases this probability by a factor of 1.43. The threshold Pras score for this possibility is 5.5 (AUC = 0.651; 95% CI, 0.545-0.757; P = .006; sensitivity, 65%; specificity, 55%). CONCLUSION: M694V was the most common and severe mutation in our cohort. The presence of a first-degree relative with FMF and Pras scores ≥5.5 may predict a homozygous or compound heterozygous mutation for M694V.

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