A de novo heterozygous CASR mutation that is responsible for NHPT may also present in individuals with asymptomatic hypocalciuric hypercalcemia. [edmcasereports.com]

In addition, a 22-year-old man presented with hypercalcemia, fatigue, and generalized rib pain, and a 52-year-old woman who had an approximately 20-year history of hypercalcemia presented with headaches, abdominal pain, vomiting, fatigue, and musculoskeletal [nejm.org]

Presentation on theme: "Familial Hypocalciuric Hypercalcemia(FHH) CASR Disorders"— Presentation transcript: 1 Familial Hypocalciuric Hypercalcemia(FHH) CASR Disorders Gita Majdi, M.D, MRCP (UK), FRCPC,ABIM PGY5 Endocrinology Feb 2015 2 Objectives: Introduction [slideplayer.com]

Last updated May 3, 2018 Autosomal Dominant Hypocalcemia (ADH) is a genetic disorder that is inherited in an autosomal dominant manner, where one defective copy of either affected gene can cause the disorder if present in all the cells. [dovemed.com]

Disorders of the parathyroid glands most commonly present with abnormalities of serum calcium. [aafp.org]

• Inflammation

  Yet, over a decade later, understanding of how this genetic defect leads to colonization by bacteria and inflammation in the lung remains elusive. معاينة هذا الكتاب » [books.google.com]

  Eosinophilic Granulomatosis With Polyangiitis (EPGA) January 17, 2019 by Eosinophilic granulomatosis with polyangiitis (EGPA), also called Churg Strauss syndrome, is a rare, chronic disorder and a form of primary systemic autoimmune vasculitis characterized by inflammation [checkrare.com]

  Hypercalcemia High blood calcium levels Increased calcium in blood [ more ] 0003072 Hypermagnesemia High blood magnesium levels 0002918 Hypocalciuria Low urine calcium levels 0003127 Multiple lipomas Multiple fatty lumps 0001012 Pancreatitis Pancreatic inflammation [rarediseases.info.nih.gov]

• Precocious Puberty

  External links [ edit ] v t e Cell surface receptor deficiencies G protein-coupled receptor (including hormone ) Class A TSHR ( Congenital hypothyroidism 1 ) LHCGR ( Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty [en.wikipedia.org]

• Fracture

  Possible diagnoses: bone disease, insufficiency fractures, osteomalacia, osteoporosis Table 1. [aafp.org]

  A case of NHPT carrying the heterozygous S591C has previously been described with multiple fracture and bone erosion (6). [edmcasereports.com]

  There was no history of endocrine tumors, fracture or kidney stones in him or his family. Other than obesity, his physical examination was normal. He was referred to an endocrinologist. [scorgloballifeamericas.com]

  Fractures are rarely reported. Neuromuscular function does not appear to be abnormal. [endocrinologyadvisor.com]

• Ulcer

  Showing of 10 | 5%-29% of people have these symptoms Nephrolithiasis Kidney stones 0000787 Peptic ulcer 0004398 Percent of people who have these symptoms is not available through HPO Chondrocalcinosis Calcium deposits in joints 0000934 Hypercalcemia High [rarediseases.info.nih.gov]

  BECKY Connecticut “He has a stomach ulcer and [takes]antacids, like Tums,that contain calcium.” [nytimes.com]

  syncope Possible diagnoses: diastolic dysfunction, dysrhythmias, hypertension, left ventricular hypertrophy, vascular calcification Gastrointestinal Anorexia, constipation, epigastric pain, nausea, vomiting Possible diagnoses: pancreatitis, peptic ulcer [aafp.org]

  The availability of effective drugs for peptic ulcer disease and osteoporosis has greatly reduced the incidence of this syndrome. Symptoms and Signs In mild hypercalcemia, many patients are asymptomatic. [merckmanuals.com]

[…] severe primary hyperparathyroidism Establishing a diagnosis of autosomal dominant hypoparathyroidism As part of the workup of idiopathic hypoparathyroidism As part of the workup of patients with Bartter syndrome Clinical Information Discusses physiology [mayomedicallaboratories.com]

Genetic testing is an important part of the workup in the assessment of patients with suspected MEN 2 syndrome, and the clinical features and tumor behavior are closely related to the specific RET germ-line mutation present. [entokey.com]

• Nephrolithiasis

  The urine calcium concentration is high; hence, the increased risk of nephrolithiasis in these patients. Also, the urine concentrating ability may be diminished in primary hyperparathyroidism. [renalfellow.blogspot.com]

  Showing of 10 | 5%-29% of people have these symptoms Nephrolithiasis Kidney stones 0000787 Peptic ulcer 0004398 Percent of people who have these symptoms is not available through HPO Chondrocalcinosis Calcium deposits in joints 0000934 Hypercalcemia High [rarediseases.info.nih.gov]

  The incidence of complications associated with primary hyperparathyroidism, like osteopenia and nephrolithiasis, is not increased in persons with benign familial hypocalciuric hypercalcemia, and the rates are similar to those in the general population [shifrinmd.com]

  Patients with primary hyperparathyroidism, the most common cause of hypercalcemia in outpatients, are often asymptomatic or may have bone disease, nephrolithiasis, or neuromuscular symptoms. [aafp.org]

  Symptomatic PHPT is characterized by the mnemonic: Bones (bone pain from calcium resorption) Stones (nephrolithiasis) Abdominal Moans (anorexia, nausea, constipation) Psychic Groans (anxiety, depression, cognitive changes) However, symptomatic PHPT is [scorgloballifeamericas.com]

• Hypocalciuria

  It is caused by a loss-of-function mutation in the calcium-sensing receptor gene (CASR) leading to a general calcium-hyposensitivity, compensatory hypercalcaemia and hypocalciuria. [shifrinmd.com]

  In FHH type 2, marked hypocalciuria is noted. FHH type 3 exhibits mild hypophosphatemia and elevated plasma PTH concentrations. [orpha.net]

  We describe a 65-year-old woman who had hypercalcemia with normal circulating parathyroid hormone concentrations and hypocalciuria, features consistent with FHH, but she did not have CaSR and AP2σ mutations. [uir.ulster.ac.uk]

  […] people who have these symptoms is not available through HPO Chondrocalcinosis Calcium deposits in joints 0000934 Hypercalcemia High blood calcium levels Increased calcium in blood [ more ] 0003072 Hypermagnesemia High blood magnesium levels 0002918 Hypocalciuria [rarediseases.info.nih.gov]

• Hypermagnesemia

  Clinical Manifestations Asymptomatic, mild, intermittent hypercalcemia, with hypermagnesemia may be occasionally found. [renaltube.com]

  […] phenotype number #600740 ) Familial hypocalciuric hypercalcemia (HHC) is a benign condition associated with hypercalcemia, low urinary calcium excretion (assessed via a calcium/creatinine clearance ratio), normal to minimally elevated PTH levels, and hypermagnesemia [iofbonehealth.org]

  Kidney stones 0000787 Peptic ulcer 0004398 Percent of people who have these symptoms is not available through HPO Chondrocalcinosis Calcium deposits in joints 0000934 Hypercalcemia High blood calcium levels Increased calcium in blood [ more ] 0003072 Hypermagnesemia [rarediseases.info.nih.gov]

  Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. {ECO:0000269 PubMed:23222959, ECO:0000269 PubMed:24081735}. [genecards.org]

  Laboratory signs of FHH include: High blood levels of calcium (hypercalcemia) A low amount of calcium excreted in the urine ( Ca excretion rate < 0.02 mmol/L) High blood levels of magnesium (hypermagnesemia) High normal to mildly elevated parathyroid [en.wikipedia.org]

• Hypophosphatemia

  FHH type 3 exhibits mild hypophosphatemia and elevated plasma PTH concentrations. Differential diagnosis Primary hyperparathyroidism is clinically similar to FHH, apart from the presence of hypercalcemia. [orpha.net]

  When primary hyperparathyroidism was a symptomatic disorder, hypophosphatemia was common. Now, however, frankly low serum phosphate levels are not common. Bone turnover markers are usually high or in the upper range of normal. [endocrinologyadvisor.com]

  University of California, San Francisco, CA, February 11, 2007 (received for review October 10, 2006) 43 Case A 74-year-old man, who had been receiving treatment for hypertension, presented with: hypercalcemia (Ca 12.1 mg/dl, normal 8.4–9.7), Mild hypophosphatemia [slideplayer.com]

  Endocrinology, Diabetes & Metabolism Case Reports 2015, 1; 10.1530/EDM-15-0016 Investigation Laboratory evaluation ( Table 1 ) revealed hypercalcemia (serum calcium 12.4 mg/dl, when corrected for a mild hypoalbuminemia; reference values 8.8–10.8), mild hypophosphatemia [edmcasereports.com]

• Calcium Increased

  And his father also had high calcium levels. There are only a couple of inherited diseases that can cause increased calcium levels. [nytimes.com]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Relating to Osteoporosis Lstrand: Are there any new treatments for osteoporosis? Leila_Khan,_MD: There are several new treatments coming in the next few months. Stay tuned! [my.clevelandclinic.org]

A fall of 50% or more 10 min after removal of the adenoma indicates successful treatment. [merckmanuals.com]

The cost of cinacalcet (Sensipar) ranges from $4,000 to $23,500 per year, depending on the dosage. 57 Treatment of CaSR Oral CaSR antagonists (calcilytics) are in development for the treatment of osteoporosis. [slideplayer.com]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

(Outcomes/Resolutions) The prognosis of Autosomal Dominant Hypocalcemia is reported to be dictated by the type and severity of symptoms in the affected individuals Individuals with mild signs and symptoms of ADH have better prognosis than those with severe [dovemed.com]

Prognosis Familial hypocalciuric hypercalcemia is a benign disease. Complications Hypercalcemia can cause pancreatitis and chondrocalcinosis. Lipomas are frequent too. Bibliography Aida, K., Koishi, S., Inoue, M., Nakazato, M., Tawata, M., Onaya, T. [renaltube.com]

Prognosis FHH does not lower life expectancy and has a benign, stable course. The documents contained in this web site are presented for information purposes only. [orpha.net]

Quite often, hypercalcemia is a late finding in malignancy, and it often portends a poor prognosis. If the PTHrP is not elevated, physicians turn to the Vitamin D levels in the evaluation of hypercalcemia. [scorgloballifeamericas.com]

Review Summary Nature Reviews Nephrology 2008年2月1日 Hereditary etiologies of hypomagnesemia PubMedおよびOvidデータベースを用いて文献検索を実施した。 [natureasia.com]

Etiology There are 3 genetic types of FHH based on chromosome location. FHH type 1 accounts for 65% of cases and is due to inactivating mutations in the CASR gene, localized to 3q21.1. This gene encodes the calcium-sensing receptor (CaSR). [orpha.net]

The etiology of MEN1 syndrome is menin inactivation. [hormones.gr]

Typically, diagnosis is made in the pursuit of uncovering the etiology of hypercalcemia. Calcium levels are often in the high normal range or slightly elevated. [en.wikipedia.org]

[…] type 1 Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare respiratory disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological [csbg.cnb.csic.es]

Summary Epidemiology Prevalence is unknown. [orpha.net]

Yu N et al. ”A record linkage study of outcomes in patients with mild primary hyperparathyroidism: The Parathyroid Epidemiology and Audit Research Study (PEARS).” Clinical Endocrinology, 2011 75:169–176. Alfadda TI et al. [scorgloballifeamericas.com]

"Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research". J. Bone Miner. Res. 26 (10): 2317–37. doi : 10.1002/jbmr.483. PMC 3405491. [wikidoc.org]

From basic science and pathophysiology to clinical best practices, Brenner & Rector’s The Kidney is your go-to resource for any stage of your career. [books.google.com]

[…] severe primary hyperparathyroidism Establishing a diagnosis of autosomal dominant hypoparathyroidism As part of the workup of idiopathic hypoparathyroidism As part of the workup of patients with Bartter syndrome Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]

"Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research". J. Bone Miner. Res. 26 (10): 2317–37. doi : 10.1002/jbmr.483. PMC 3405491. [wikidoc.org]

Cotter, Hypothesis review: are clathrin-mediated endocytosis and clathrin-dependent membrane and protein trafficking core pathophysiological processes in schizophrenia and bipolar disorder? Mol. [link.springer.com]

[…] inappropriately normal or the frankly elevated parathyroid hormone levels in these conditions result from a defect in calcium sensing that affects all parathyroid tissue, subtotal parathyroidectomy does not usually lead to long-term normocalcemia. 8 9 10 Pathophysiology [slideplayer.com]

Kero J et al. (2007) Thyrocyte-specific Gq/G11 deficiency impairs thyroid function and prevents goiter development. [^] 5. [moldiag.com]

The mainstay for treatment in patients with MEN 2, with early identification of germ-line mutations in the RET gene, is prophylactic thyroidectomy to prevent medullary thyroid carcinoma. [entokey.com]

Measures used for treatment can also be used for prevention. One aim is to prevent hyperphosphatemia. Treatment combines dietary phosphate restriction and phosphate binding agents, such as calcium carbonate or sevelamer. [merckmanuals.com]

Center for Research, Prevention and Treatment of Atherosclerosis Hadassah-Hebrew University Medical Center Jerusalem Israel 3. Pediatric Endocrinology, Armon Child Center Carmel Hospital, Clalit Health Service Haifa Israel 4. [link.springer.com]