Concomitance of Gitelman Syndrome and Familial Mediterranean Fever: A Rare Case Presentation

Erten, Şükran; Ceylan, Gülay Güleç; Altunoğlu, Alparslan

doi:10.3109/0886022x.2012.718950

Cited by 5 publications

(4 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Other rarer associations have been reported, with: systemic lupus erythematosus [46][47][48], sarcoidosis [38], Blau syndrome [49], Kartagener syndrome [50], Gitelman syndrome [51], Fabry syndrome [52], celiac disease [53], polymyositis [54], juvenile dermatomyositis [55], beta-thalassemia [56], atrophic polychondritis [57], fibromyalgia [58], eosinophilic gastroenteritis [59], and tumor necrosis factor receptor-1 syndrome (TRAPS syndrome) [60].…”

Section: Familial Mediterranean Fever and Its Rarer Associationsmentioning

confidence: 99%

Familial Mediterranean fever: What associations to screen for?

Bouomrani¹,

Masmoudi²,

Teber³

2020

Reumatologia

View full text Add to dashboard Cite

Familial Mediterranean fever (FMF) is the most common and best known of hereditary recurrent fever or periodic fever syndromes. It was described in 1945 and genetically characterized in 1992. It is caused by a point mutation in the MEFV gene located on the short arm of chromosome 16. It is particularly frequent among Sephardic Jews, Armenians, Turks and Middle Eastern Arabs, where the prevalence can reach 1/2000 to 1/1000. Recent publications described its frequent association with other diseases and/or syndromes, particularly those of autoimmune, genetic, and autoinflammatory origin. The objective of this review is to familiarize healthcare professionals with the main associations to look for in patients followed for FMF. The early detection of these associations makes it possible to improve the management and the prognosis of patients with FMF.

show abstract

Section: Familial Mediterranean Fever and Its Rarer Associationsmentioning

confidence: 99%

Familial Mediterranean fever: What associations to screen for?

Bouomrani¹,

Masmoudi²,

Teber³

2020

Reumatologia

View full text Add to dashboard Cite

show abstract

“…Improvement of biochemical abnormalities with potassium and magnesium supplementations resulted in clinical improvement at the end of the follow-up of two years in their patient. 4 Our patient had clinical and laboratory features of FMF and GS, also homozygous mutations in both M694V and SLC12A3 genes. The clinical symptoms such as polyuria and polydipsia, and biochemical findings of GS in our patient improved with oral potassium and magnesium supplementations in 20 months of follow-up period.…”

Section: Discussionmentioning

confidence: 59%

“…Coexistence of GS and FMF has not yet been reported in childhood. [11][12][13] Erten et al 4 reported the coexistence of GS and FMF in a 46-year-old man with heterozygosity for E148Q mutation in MEFV without a confirmed mutation in SLC12A3. This patient was diagnosed with GS based on clinical and biochemical findings.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent

et al. 2019

View full text Add to dashboard Cite

Gitelman syndrome is a renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Patients occasionally have symptoms in childhood, while diagnosis is often in adulthood. It is inherited by an autosomal recessive manner through SLC12A3 gene mutations. Familial Mediterranean Fever (FMF) is the most common autoinflammatory disorder, inherited by an autosomal recessive manner and characterized by recurrent fever and pleuritis, peritonitis, and synovitis. Mutations in MEditerrenean FeVer (MEFV) gene, coding pyrin protein are responsible for FMF. Both MEFV and SCL12A3 genes were located on chromosome 16. A 9-year-old boy was admitted to our department because of recurrent abdominal pain, fever, joint pain and swelling since he was three years old. He was diagnosed as FMF and MEFV gene sequencing revealed homozygous M694V (c.2080A>G) mutation. At the age of 14 years, polyuria, polydipsia, hypokalemia and mild hypomagnesemia had occurred. Patient was successfully treated with oral supplementation of potassium and magnesium along with colchicine. Molecular genetic analysis including SCL12A3 gene sequencing revealed homozygote IVS4-16G>A (c.602-16G>A) intronic splicing site mutation.

show abstract

Non-canonical manifestations of familial Mediterranean fever: a changing paradigm

et al. 2015

View full text Add to dashboard Cite

Paroxysmal crises of fever and systemic inflammation herald familial Mediterranean fever (FMF), considered as the archetype of all inherited systemic autoinflammatory diseases. Inflammatory bouts are characterized by short-term and self-limited abdominal, thoracic, and/or articular symptoms which subside spontaneously. Erysipelas-like findings, orchitis, and different patterns of myalgia may appear in a minority of patients. In recent years, many non-classical manifestations have been reported in the clinical context of FMF, such as vasculitides and thrombotic manifestations, neurologic and sensory organ abnormalities, gastrointestinal diseases, and even macrophage activation syndrome. As FMF left unrecognized and untreated is ominously complicated by the occurrence of AA-amyloidosis, it is highly desirable that diagnosis of this autoinflammatory disorder with its multiple clinical faces can be contemplated at whatever age and brought forward.

show abstract

Concomitance of Gitelman Syndrome and Familial Mediterranean Fever: A Rare Case Presentation

Cited by 5 publications

References 8 publications

Familial Mediterranean fever: What associations to screen for?

Familial Mediterranean fever: What associations to screen for?

Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent

Non-canonical manifestations of familial Mediterranean fever: a changing paradigm

Contact Info

Product

Resources

About