Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. (nih.gov)
For a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 (602014). (nih.gov)
In a study of patients with familial osteoarthritis with chondrocalcinosis, Ramos et al identified a mutation in TNFRSF11B that results in a form of osteoprotegerin with enhanced capacity to inhibit osteoclastogenesis and bone resorption. (medscape.com)
Hypokalemia-hypomagnesemia3
Hypokalemia, hypomagnesemia, and increased renin-angiotensin-aldosterone system (RAAS) activity can cause glucose metabolism dysfunction. (bvsalud.org)
GS patients often have abnormal glucose metabolism, which is mainly caused by hypokalemia, hypomagnesemia, and secondary activation of RAAS. (bvsalud.org)
Characterized by hypokalemic metabolic alkalosis2
It is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. (bvsalud.org)
Gitelman syndrome (GTLMNS) is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. (nih.gov)
Cartilage calcification3
Chondrocalcinosis or cartilage calcification is calcification (accumulation of calcium salts) in hyaline cartilage and/or fibrocartilage. (wikipedia.org)
Chondrocalcinosis (CC) defines cartilage calcification, most commonly due to CPPD and detected by imaging or histological examination. (bmj.com)
Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. (mendelian.co)
CPPD crystal deposition (chondrocalcinosis, pyrophosphate arthropathy), whether symptomatic and asymptomatic, becomes more common with age. (msdmanuals.com)
Gitelman3
Other causes of chondrocalcinosis include: Hypercalcaemia, especially when caused by hyperparathyroidism Arthritis Pseudogout Wilson disease Hemochromatosis Ochronosis Hypophosphatasia Hypothyroidism Hyperoxalemia Acromegaly Gitelman syndromeChondrocalcinosis can be visualized on projectional radiography, CT scan, MRI, ultrasound, and nuclear medicine. (wikipedia.org)
Gitelman syndrome (GS) is the most frequent salt-wasting genetic tubulopathy and a source of hypokalaemia and hypomagnesemia. (nih.gov)
Hypomagnesemia-serum levels of magnesium levels below the usual reference range of 1.5 to 2.5 mg/dL-can result from decreased intake, redistribution of magnesium from the extracellular to the intracellular space, or increased renal or gastrointestinal loss. (medscape.com)
For the most part, the signs and symptoms of hypomagnesemia are reversible with magnesium replacement. (medscape.com)
Hypomagnesemia (Low Level of Magnesium in the Blood) In hypomagnesemia, the level of magnesium in blood is too low. (msdmanuals.com)
Prevalence1
Previous studies have overestimated the prevalence by simply estimating the prevalence of chondrocalcinosis regardless of cause. (wikipedia.org)
Osteoarthritis1
Radiograph of the wrist and hand showing chondrocalcinosis of the articular disc of the wrist and atypical osteoarthritis involving the metacarpophalangeal joints in a patient with underlying hemochromatosis. (medscape.com)
Genetic1
Genetic Heterogeneity of ChondrocalcinosisAnother form of chondrocalcinosis ( CCAL1 ) has been mapped to chromosome 8q. (mendelian.co)
Symptomatic1
Symptomatic hypomagnesemia commonly presents as involvement of the cardiovascular system and the central and peripheral nervous systems. (medscape.com)
Primary1
Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g. (mendelian.co)
Frequent1
Chondrocalcinosis (CC) is a frequent feature of GS. (nih.gov)
Younger1
His younger sister who had hypokalemia and hypomagnesemia carried the same compound heterozygous mutations as the proband and was diagnosed with GS as well, but with a much milder clinical presentation and better treatment outcome. (bvsalud.org)
Clinical1
Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al. (nih.gov)