Familial Mediterranean fever in Syrian children: phenotype-genotype correlation.

[familial mediterranean fever]

Familial Mediterranean fever (FMF ) is an autosomal recessive disease characterized by recurrent attacks of serosal membranes . In this study , 103 unrelated Syrian children were included . Mutation screening of the MEditerranean FeVer gene was performed for 12 mutations . Abdominal pain was observed in 91 (88 .3 %) of the patients , fever in 82 (79 .6 %), arthritis in 27 (26 .2 %), pleuritis in 7 (6 .7 .5 %), rash and erysipelas -like erythema in 5 (4 .8 %), myalgia in 5 (4 .8 %), headache in 5 (4 .8 %) and Henoch-Schonlein purpura in 1 (0 .97 %). The most frequent mutation was M 694 V . In order to determine the association between M 694 V and clinical features of FMF , we compared the disease features between patients with and without this mutation . The presence of M 694 V was found to be associated with more severe course of FMF , earlier age of onset and more frequent arthritis in the Syrian children with FMF compared to other FMF patients who do not have this mutation .

Diseases
Validation

Diseases presenting "abdominal pain" symptom

22q11.2 deletion syndrome

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

carcinoma of the gallbladder

child syndrome

cholangiocarcinoma

congenital diaphragmatic hernia

cushing syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

erdheim-chester disease

erythropoietic protoporphyria

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

focal myositis

liposarcoma

lymphangioleiomyomatosis

malignant atrophic papulosis

pleomorphic liposarcoma

primary effusion lymphoma

primary hyperoxaluria type 1

proteus syndrome

scrub typhus

sneddon syndrome

systemic capillary leak syndrome

typhoid

von hippel-lindau disease

well-differentiated liposarcoma

This symptom has already been validated