{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T18:14:29Z","timestamp":1785521669927,"version":"3.56.0"},"reference-count":0,"publisher":"ALUNA","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Wiadomo\u015bci Lekarskie"],"abstract":"<jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>Background: Familial Mediterranean fever (FMF) in Kurdish children is understudied, especially regarding the effect of high parental consanguinity on genetics and disease severity. Objective: To describe the clinical picture, laboratory findings, and MEFV mutation profile of FMF children in Duhok, Iraq, and to examine the influence of consanguinity on genotype\u2011phenotype relationships.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Material and methods<\/jats:title>\n                    <jats:p>Methods: Cross\u2011sectional study (Jan\u202f2017\u2011Jan\u202f2025) of 92 children \u226416\u202fyears meeting Tel\u2011Hashomer criteria and with molecularly confirmed MEFV mutations. Data on demographics, family history, consanguinity, symptoms, attack characteristics, acute\u2011phase reactants, genotype, colchicine response, and complications were collected retrospectively and prospectively. Analyses used SPSS\u202fv27 (chi\u2011square, t\u2011test, logistic regression; P&lt;0.05.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Results: Mean age\u202f8\u202fy; 65% male; parental consanguinity 79%; positive family history 63%. Fever (100%) and abdominal pain 85% were universal; arthritis 46.7% and growth retardation 61% were notably high. Mean attack labs: WBC\u202f12.9\u202f\u00d7\u202f10\u2079\/L, ESR\u202f50\u202fmm\/h, CRP\u202f63\u202fmg\/L. MEFV alleles: E148Q 38%, M694V (22%), V726A (15%), M680I (12%). Exon\u201110 homo\/compound heterozygotes (M694V\/M680I) were linked to earlier onset, more frequent\/longer attacks and higher ESR\/CRP (OR\u22483, p&lt;0.001); simple E148Q carriers had milder disease. Colchicine was effective in 94.6% of patients; no amyloidosis was observed. Consanguinity independently predicted the presence of two pathogenic exon\u201110 alleles p=0.02.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Conclusion: Duhok\u2019s pediatric FMF cohort shows classic fever\/serositis but higher arthritis, growth failure, and an unusual predominance of the low\u2011penetrance E148Q mutation, likely driven by extreme consanguinity. Exon\u201110 mutations confer a severe phenotype, while colchicine remains highly effective. Targeted genetic counseling and early mutation\u2011guided management are warranted in this high\u2011consanguinity population.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.36740\/wlek\/221158","type":"journal-article","created":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T17:04:17Z","timestamp":1785517457000},"page":"1194-1202","source":"Crossref","is-referenced-by-count":0,"title":["Genetic, Clinical, and Laboratory Profile of Pediatric Patients with Familial Mediterranean fever at Duhok City"],"prefix":"10.36740","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-6040-0409","authenticated-orcid":false,"given":"Salah Abdulkareem","family":"Ibrahim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"22436","published-online":{"date-parts":[[2026,6,30]]},"container-title":["Wiadomo\u015bci Lekarskie"],"original-title":[],"link":[{"URL":"https:\/\/www.wiadomoscilekarskie.pl\/pdf-221158-142975","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.wiadomoscilekarskie.pl\/pdf-221158-142975","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T17:04:19Z","timestamp":1785517459000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.wiadomoscilekarskie.pl\/Genetic-Clinical-and-Laboratory-Profile-of-Pediatric-Patients-with-Familial-Mediterranean,221158,0,2.html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,30]]},"references-count":0,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026]]}},"alternative-id":["221158"],"URL":"https:\/\/doi.org\/10.36740\/wlek\/221158","relation":{},"ISSN":["0043-5147","2719-342X"],"issn-type":[{"value":"0043-5147","type":"print"},{"value":"2719-342X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,30]]}}}