Familial Mediterranean fever in children: the expanded clinical profile

Majeed, H. A.; Rawashdeh, Mohammed; El-Shanti, Hatem; Qubain, H.; Khuri‐Bulos, Najwa; Shahin, H.M.

doi:10.1093/oxfordjournals.qjmed.a030153

Cited by 13 publications

(15 citation statements)

References 1 publication

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“…23 Interestingly this family was of a consanguineous Palestinian Arab background. The authors proposed that the inherited tendency to the 2 disorders segregated together.…”

Section: Discussionmentioning

confidence: 98%

Allogeneic bone marrow transplantation: cure for familial Mediterranean fever

Milledge

Shaw

Mansour

et al. 2002

Blood

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We describe data on a 7-year-old girl with congenital dyserythropoietic anemia (CDA), who also had familial Mediterranean fever (FMF). Repeated transfusions required since the age of 6 months to treat her CDA led to iron overload and a persistently high ferritin level. Her relapsing FMF made effective iron chelation therapy very difficult. Consequently, at the age of 4 years, she underwent allogeneic, sibling bone marrow transplantation (BMT). During conditioning for her BMT, symptoms of FMF, including splenomegaly, arthritis, and recurrent abdominal pain, began to resolve and she was gradually weaned off colchicine. Now, 2 years after the transplantation, she remains free from FMF symptomatology and is off all immunosuppressants. This case demonstrates that symptoms of FMF can be alleviated by the therapy used during allogeneic BMT. In this patient it is likely that the missing factor in FMF is now being provided by granulocytes derived from the stem cells within transplanted bone marrow. (Blood. 2002;100: 774-777)

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“…23 Interestingly this family was of a consanguineous Palestinian Arab background. The authors proposed that the inherited tendency to the 2 disorders segregated together.…”

Section: Discussionmentioning

confidence: 98%

Allogeneic bone marrow transplantation: cure for familial Mediterranean fever

Milledge

Shaw

Mansour

et al. 2002

Blood

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“…FMF is a childhood disease that generally shows its symptoms between the ages of 5 and 15 years (14). Majeed et al (15) reported that FMF starts before the age of 10 in approximately 80% of the patients, while Gedalia et al (16) reported that the disease starts before the age of 10 in 60% of patients. In their study, Mimouni et al (17) reported the onset age of the dis- ease in Turks to be 12.3 years.…”

Section: Discussionmentioning

confidence: 99%

“…Majeed et al's study (15) comprised 54% female and 46% male patients. In our study, 52% of the patients are female and 48% male, which is consistent with the studies reported.…”

Section: M680i(g/mentioning

confidence: 99%

MEFV Mutation Frequency in Pediatric Patients with Familial Mediterranean Fever and its Relationship with Clinical Phenotypes in Marmara Region of Turkey

et al. 2017

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Background: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterised by recurrent fever, peritonitis, pleuritis, and arthritis. Three hundred and seventeen mutations and polymorphisms related to FMF have been identified to date. Objectives: The evaluation of the distribution of genetic mutations in children whose FMF study was conducted in Marmara region in Turkey and the relationship between clinical findings and the mutation was aimed in the study. Methods:The files of all patients whose pre-diagnosis of FMF and MEFV gene mutation analysis were made, were evaluated retrospectively. The results of the MEFV gene mutation analysis of the patients were screened retrospectively. Common MEFV gene mutation analyses were studied. The age, gender, presenting complaints, and histories of the patients were obtained from the files and records.

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“…Prior studies reported that 0.5 mg/day of colchicine in children <5 years of age, 1 mg/day for children between five and 10 years of age, and 1.5 mg/day for children >10 years of age was successful in the majority of children. [11,12] Failure to respond to 2 mg/day usually predicts a failure of higher doses which also increases the risk of drug toxicity. [10,13] Substantial subclinical inflammation occurs widely and over prolonged periods in patients with FMF, [14] and young patients with chronic inflammatory disease are predisposed to associated growth retardation.…”

Section: Discussionmentioning

confidence: 99%

Effect of Colchicine-Resistant Familial Mediterranean Fever on Growth Parameters

2011

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Amaç: Bu çalışmada Kolşisin tedavisine dirençli ailesel Akdeniz ateşi (AAA) hastalarında büyüme ve gelişme değerlendirildi. Hastalar ve yöntemler: Ege Üniversitesi Tıp FakültesiÇocuk Nefrolojisi Kliniği'nde Tel Hashomer kriterlerine göre AAA tanısı konulan toplam 87 hasta (45 kız, 42 erkek; ort. yaş 9.6±3.8; dağılım 2-17 yıl) çalışmaya alındı. Atak sırasında hastaların tümünde lökositoz, C-reaktif protein ve fibrinojen seviyesi yüksekliği, artmış eritrosit sedimantasyon hızı ve serum amiloid A seviyesi yüksekliği vardı. Hastalar kolşisin tedavi yanıtlarına göre iki gruba ayrıldı. Günde 2 mg kolşisin almasına rağmen sık şekilde atak (>1 atak/3 ay) geçiren 27 hasta (13 kız, 14 erkek; ort. yaş 9.9±3.2 yıl) kolşisine dirençli şeklinde tanımlandı. Altmış hasta kolşisin tedavisine yanıtlı olarak değerlendirildi. Tanı sırasında ve izlem sonunda hastaların antropometrik değerlendirmeleri yapıldı. Büyüme parametresi olarak hastaların boy ve ağırlık Z skorları kullanıldı. Bulgular: Gruplar arasında mutasyon sıklığı açısından istatistiksel olarak anlamlı fark bulunmadı. İki grup arasında tanı sırasında tespit edilen antropometrik değerlerle hesaplanan kilo ve boy Z skorları arasında anlamlı farklılık yoktu. Hastaların izlem sonunda yapılan değerlendirmesinde yaşa göre ağırlık ve yaşa göre boy skorunun ve vücut kütle indeksi Z skorunun kolşisine dirençli grupta anlamlı olarak azaldığı görüldü (p= 0.008, p= 0.013, p= 0.027).Sonuç: Ailesel Akdeniz ateşi hastalarında inflamatuvar yanıtın etkin bir şekilde baskılanması büyüme üzerine olumlu bir etki sağlar. Kolşisin AAA hastalığının tedavisinde bilinen en etkin ilaç olmakla birlikte yeterli yanıt alınmayan hastaların olduğu da bilinmektedir. Kolşisin tedavisine dirençli AAA hastalarının erken dönemde tanınması ve tedavisinin uygun şekilde düzenlenmesi gerekmektedir. Ailesel Akdeniz ateşi hastalarında büyüme geriliği saptanması kolşisin direncinin belirlenmesinde önemlidir.Anahtar sözcükler: Çocukluk dönemi; kolşisin direnci; ailesel akdeniz ateşi; büyüme parametreleri. Objectives:This study aims to evaluate the growth and development in patients with Familial Mediterranean fever (FMF) resistant to colchicine treatment. Patients and methods:Eighty-seven patients (45 females, 42 males; mean age 9.6±3.8 years; range 2 to 17 years) diagnosed with FMF according to Tel Hashomer criteria in the Pediatric Nephrology Department of Ege University Faculty of Medicine were included in the study. All patients had leukocytosis and elevated C-reactive protein, fibrinojen levels, erythrocyte sedimentation rate and serum amyloid A levels during attacks. The patients were divided into two groups according to colchicine treatment response. Twenty-seven patients (13 girls, 14 boys; mean age; 9.9±3.2 years) having frequent attacks (>1 attact/3 month) despite receiving 2 mg/day colchicine treatment were defined as colchicine-resistant. Sixty patients were defined as colchicine treatment responders. Anthropometric evaluations of the patients were performed at diagnosis and at the end of the follow-up...

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Familial Mediterranean fever in children: the expanded clinical profile

Cited by 13 publications

References 1 publication

Allogeneic bone marrow transplantation: cure for familial Mediterranean fever

Allogeneic bone marrow transplantation: cure for familial Mediterranean fever

MEFV Mutation Frequency in Pediatric Patients with Familial Mediterranean Fever and its Relationship with Clinical Phenotypes in Marmara Region of Turkey

Effect of Colchicine-Resistant Familial Mediterranean Fever on Growth Parameters

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