Familial mediterranean Fever and renal disease.
PMID 17657110 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2003 · View on PubMed ↗
Familial Mediterranean Fever (FMF) is a genetic disorder frequently diagnosed among the Arabs. It is also prevalent among Jews, Armenians and Turks. The clinical picture consists of febrile and painful attacks such as joint or chest pain that differ in quality across patients and even within the same patient. The gene responsible for FMF, MEFV, has been cloned and mutations were identified within its coding sequence. It encodes a protein that is expected to be a down regulator of inflammation. The major renal involvement in FMF is the occurrence of amyloidosis that primarily affects the kidneys causing proteinuria and ending in death from renal failure. It can be treated by dialysis and renal transplantation, but can be prevented by a daily regimen of colchicine. Other renal manifestations of FMF are discussed.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MEFV | “The gene responsible for FMF, MEFV, has been cloned and mutations were identified within its coding sequence.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial Mediterranean fever | “Familial mediterranean Fever and renal disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | renal failure | “The major renal involvement in FMF is the occurrence of amyloidosis that primarily affects the kidneys causing proteinuria and ending in death from renal failure.” | 0.98 | phenotype_alias_lexicon_v2 |