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Familial Hypocalciuric Hypercalcemia - StatPearls - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK459190/
WEBJul 17, 2023 · Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant condition. It occurs as a result of mutations in the calcium-sensing receptor gene (CASR) that lead to decreased receptor activity. Patients typically have mild hypercalcemia, hypocalciuria, hypermagnesemia, and hypophosphatemia.
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Familial hypocalciuric hypercalcemia - Wikipedia
https://en.wikipedia.org/wiki/Familial_hypocalciuric_hypercalcemia
WEBFamilial hypocalciuric hypercalcemia ( FHH) is an inherited condition that can cause hypercalcemia, a serum calcium level typically above 10.2 mg/dL; although uncommon. [1] .
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Familial hypocalciuric hypercalcemia - Genetic and Rare …
https://rarediseases.info.nih.gov/diseases/10828/familial-hypocalciuric-hypercalcemia/
WEBFamilial hypocalciuric hypercalcemia (FHH) is an inherited disorder that causes abnormally high levels of calcium in the blood (hypercalcemia) and low to moderate levels of calcium in urine (hypocalciuric). People with FHH usually do not have any symptoms and are often diagnosed by chance during routine bloodwork.
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Benign Familial Hypocalciuric Hypercalcemia - Endocrine Practice
https://www.endocrinepractice.org/article/S1530-891X(20)42061-0/fulltext
WEBBenign familial hypocalciuric hypercalcemia is an autosomal dominant condition characterized by lifelong hypercalcemia, relative hypocalciuria, and inappropriately elevated parathyroid hormone. It is caused by a loss-of-function mutation in the calcium-sensing receptor gene ( CASR).
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Familial hypocalciuric hypercalcemia - National Organization for …
https://rarediseases.org/gard-rare-disease/familial-hypocalciuric-hypercalcemia/
WEBFamilial hypocalciuric hypercalcemia (FHH) is an inherited disorder that causes abnormally high levels of calcium in the blood ( hypercalcemia) and low to moderate levels of calcium in urine (hypocalciuric). People with FHH usually do not have any symptoms and are often diagnosed by chance during routine bloodwork.
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Familial hypocalciuric hypercalcemia and related disorders
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6767927/
WEBFHH should be considered if low or even low normal urinary calcium levels are found in what is typically an asymptomatic hypercalcemic patient. The calcimimetic cinacalcet has been used to treat hypercalcemia in certain symptomatic causes of FHH. Keywords: familial hypocalciuric hypercalcemia, Ca-sensing receptor, Hyperparathyroidism. Go to:
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Orphanet: Familial hypocalciuric hypercalcemia
https://www.orpha.net/en/disease/detail/405
WEBFamilial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. ORPHA:405. Classification level: Disorder. Synonym (s): FBHH. FHH.
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Familial Hypocalciuric Hypercalcemia (FHH) - AccessMedicine
https://accessmedicine.mhmedical.com/content.aspx?sectionid=249060687
WEBFHH is usually easily distinguished from primary hyperparathyroidism as the former usually has mildly elevated calcium levels and a normal PTH level while the latter has an elevated PTH level.
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Familial hypocalciuric hypercalcemia: the challenge of diagnosis
https://link.springer.com/article/10.1007/s12020-021-02909-5
WEBOct 29, 2021 · Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant genetic disorder classically characterized by lifelong mild-to-moderate asymptomatic hypercalcemia with inappropriately normal to elevated serum parathyroid hormone (PTH) concentrations and hypocalciuria, best expressed by a urine calcium-to-creatinine …
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Familial hypocalciuric hypercalcemia - Getting a Diagnosis
https://rarediseases.info.nih.gov/diseases/10828/familial-hypocalciuric-hypercalcemia/diagnosis/
WEBBuilding a team of providers to help you get the right diagnosis is an important early step in your rare disease journey. Providers on your diagnostic team may have advanced medical training in different body systems or types of diseases, which helps them to provide diagnostic procedures in their area of expertise.
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