OBJECTIVE: Our goal is to investigate the distribution of MEFV mutations in patients with renal amyloidosis who are in renal transplant waiting list which is prepared for transplantation. MATERIALS AND METHODS: FMF was diagnosed in 25 of the 297 patients between the years 2004 and 2008, who were involved in the study (15 male, 10 female; age 34±7.8). 5 out of 25 patients were transplanted, remaining were waiting for Tx. Biopsy results were amyloidosis and taken from renal (n:16), rectal (n:8) and duodenal (1).All of them were carrier of mutations in both pyrin alleles.The primer cause of chronic renal failure in our group was secondary AA amyloidosis. DNA was isolated from 25 whole blood samples. The NanoChip Molecular Biology Workstation (Nanogen) uses electronic microarrays for mutation detection. Exon 2,3,5 and 10 of pyrin gene genotypes were identified in the NanoChip. RESULTS: Genetic analysis of the patients demonstrated that each subject carries either homozygote or compound heterozygote mutations of the gene. The most common mutations were M694V, V726A, E148Q and M680I. CONCLUSIONS: The clinic manifestation and complain of our patients were febrile and painful attacks such as in the abdomen, chest and joints due to inflammation of the peritoneum, pleura and synovial membrane. The major problem in FMF is the occurrence of amyloidosis that primarily affects the kidneys causing proteinuria and renal failure. Dialysis and renal transplantation can be treatment, but it is important to diagnose FMF at earliest stages. The percentage of FMF patients in our waiting list was 8.4%. Moreover, in our region FMF incidence is highly frequent, so FMF should be chased by genetically so as to prevent chronic renal failure due to amyloidosis.
OBJECTIVE: Our goal is to investigate the distribution of MEFV mutations in patients with renal amyloidosis who are in renal transplant waiting list which is prepared for transplantation. MATERIALS AND METHODS:FMF was diagnosed in 25 of the 297 patients between the years 2004 and 2008, who were involved in the study (15 male, 10 female; age 34±7.8). 5 out of 25 patients were transplanted, remaining were waiting for Tx. Biopsy results were amyloidosis and taken from renal (n:16), rectal (n:8) and duodenal (1).All of them were carrier of mutations in both pyrin alleles.The primer cause of chronic renal failure in our group was secondary AA amyloidosis. DNA was isolated from 25 whole blood samples. The NanoChip Molecular Biology Workstation (Nanogen) uses electronic microarrays for mutation detection. Exon 2,3,5 and 10 of pyrin gene genotypes were identified in the NanoChip. RESULTS: Genetic analysis of the patients demonstrated that each subject carries either homozygote or compound heterozygote mutations of the gene. The most common mutations were M694V, V726A, E148Q and M680I. CONCLUSIONS: The clinic manifestation and complain of our patients were febrile and painful attacks such as in the abdomen, chest and joints due to inflammation of the peritoneum, pleura and synovial membrane. The major problem in FMF is the occurrence of amyloidosis that primarily affects the kidneys causing proteinuria and renal failure. Dialysis and renal transplantation can be treatment, but it is important to diagnose FMF at earliest stages. The percentage of FMFpatients in our waiting list was 8.4%. Moreover, in our region FMF incidence is highly frequent, so FMF should be chased by genetically so as to prevent chronic renal failure due to amyloidosis.
Authors: Claudia Fonnesu; Claudia Cerquaglia; Maria Giovinale; Valentina Curigliano; Elena Verrecchia; Giuliana de Socio; Micaela La Regina; Giovanni Gasbarrini; Raffaele Manna Journal: Joint Bone Spine Date: 2008-12-16 Impact factor: 4.929