P01-008 – FMF genotype-phenotype correlations in Germany
نویسندگان
چکیده
منابع مشابه
P01-008 – FMF genotype-phenotype correlations in Germany
Results Among the 243 patients, we detected a total of 433 pyrin mutations and 22 different sequence variants, including one new mutation (p.Gly488Asp). The four most frequent alterations were p.Met694Val (55%, n=238), p.Met680lle (12%, n=52), p.Val726Ala (10%, n=44) and p.Glu148Gln (8%, n=34). Ethnic origin could be determined in 224 cases; the prevailing ancestry was Turkish (83%, n=185), 8% ...
متن کاملGenotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
متن کاملFMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis
Objective(s):Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and ...
متن کاملP01-003 – Bleeding disorder in FMF
Introduction The most serious complication in Familial Mediterranean fever (FMF) is the development of amyloidosis, which usually determines the prognosis. Amyloid deposition can be systemic or organ-specific. The clinical features of amyloidosis are dependent on the organs involved, type of amyloidosis, rate of amyloid deposition and amount of amyloid fibrils. Organ dysfunction can cause life-...
متن کاملP01-029 – Microscopic hematuria in FMF
Methods We studied consecutive FMF patients, who came for a pre-scheduled follow up visit in the FMF clinic for the presence of microscopic hematuria, defined as ≥5 RBC/HPF or ≥25RBC/μl in urine analysis performed during remission, recorded at least once in the 3 previous clinic visits. Exclusions were known kidney, urinary tract, prostate or gynecologic diseases, bleeding or thrombotic diathes...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a12