Renal involvement, presence of amyloidosis, and genotype-phenotype relationship in pediatric patients with Familial Mediterranean fever: a single center study

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dc.authoridYıldırım, Sema/0000-0001-7311-519X
dc.authoridBekis Bozkurt, Hayrunnisa/0000-0001-8642-4872
dc.authorwosidYıldırım, Sema/GQA-9215-2022
dc.authorwosidBekis Bozkurt, Hayrunnisa/GQA-8395-2022
dc.contributor.authorBekis Bozkurt, Hayrunnisa
dc.contributor.authorYıldırım, Sema
dc.contributor.authorErgüven, Mueferet
dc.date.accessioned2023-07-26T11:55:23Z
dc.date.available2023-07-26T11:55:23Z
dc.date.issued2023
dc.departmentDÜ, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Göğüs Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractThe aim of the study is to investigate how renal involvement is correlated with frequency of amyloidosis, risk factors, and demographic and clinical characteristics in pediatric patients with Familial Mediterranean fever (FMF). Demographic and clinical characteristics and laboratory data of the pediatric patients diagnosed with FMF between 1990 and 2018 were recorded from their files. The diagnosis of patients with amyloidosis (AA) was proven by renal biopsy, and as for patients with non-amyloidosis renal involvement (RI wo AA), amyloidosis could not be detected but they were followed up with the diagnosis of proteinuria and/or hematuria. A total of 1929 FMF pediatric patients were included in the study. About 962 (49.9%) participants were male. There were 134 (6.9%) patients with RI wo AA and 23 (1.2%) patients with AA diagnosed by biopsy. The most common M694V heterozygous/homozygous(het/hom) (31%) mutation was observed. Delay in diagnosis and presence of colchicine resistance were more in patients with RI wo AA and AA (p < 0.05). M694V het/hom mutation was high in both RI wo AA and AA, while the presence of compound heterozygous with M694V mutation was high in RI wo AA (p < 0.01, p = 0.02, p = 0.048, respectively). There was a positive correlation between M694V mutation and monoarthritis/polyarthritis, between compound heterozygous with M694V mutations and presence of chest pain, and between V726A mutation and constipation. Also a negative correlation was found between E148Q and chest pain and between R202Q mutation and monoarthritis/polyarthritis. While M694V mutation increased the risk 2.6 times for AA and 1.7 times for RI wo AA, colchicine resistance increased the risk 33 times for AA and 25 times for RI wo AA.Concluson: It was concluded in the present study that M694V mutation and colchicine resistance were two important risk factors for RI wo AA (6.9%) and amyloidosis (1.2%) in FMF patients. It should be kept in mind that compound heterozygous with M694V mutations may be associated with chest pain and R202Q mutation may be negatively correlated with arthritis, unlike M694V. The genetic results and clinical findings of the patients should be evaluated together and followed up closely.en_US
dc.identifier.doi10.1007/s00431-023-04855-y
dc.identifier.issn0340-6199
dc.identifier.issn1432-1076
dc.identifier.pmid36807513en_US
dc.identifier.scopus2-s2.0-85148452377en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1007/s00431-023-04855-y
dc.identifier.urihttps://hdl.handle.net/20.500.12684/13061
dc.identifier.wosWOS:000936791200001en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.institutionauthorErgüven, Müferret
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofEuropean Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz$2023V1Guncelleme$en_US
dc.subjectAmyloidosis; Renal Involvement; Familial Mediterranean Fever; Child; M694v; Colchicine Resistanceen_US
dc.subjectRisk-Factors; Fmfen_US
dc.titleRenal involvement, presence of amyloidosis, and genotype-phenotype relationship in pediatric patients with Familial Mediterranean fever: a single center studyen_US
dc.typeArticleen_US

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