Differentiating Familial Hypocalciuric Hypercalcemia From Primary Hyperparathyroidism

Shinall, Myrick C.; Dahir, Kathryn; Broome, James T.

doi:10.4158/ep12284.ra

Cited by 57 publications

(46 citation statements)

References 37 publications

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“…Blood is drawn at the midpoint of the urine. However, the definitive diagnosis of FHH requires genetic testing [24]. There are three genetic variants of FHH determined by inactivating mutations of the CASR gene (FHH type 1) [25], of the GNA11 gene (FHH type 2) [26] and of the AP2S1 gene (FHH type 3) [27].…”

Section: C Which Tests Should Be Performed?mentioning

confidence: 99%

Italian Society of Endocrinology Consensus Statement: definition, evaluation and management of patients with mild primary hyperparathyroidism

Marcocci

Brandi

Scillitani

et al. 2015

J Endocrinol Invest

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Section: C Which Tests Should Be Performed?mentioning

confidence: 99%

Italian Society of Endocrinology Consensus Statement: definition, evaluation and management of patients with mild primary hyperparathyroidism

Marcocci

Brandi

Scillitani

et al. 2015

J Endocrinol Invest

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“…This clinical condition is due to inactivating CASR mutation: the condition can be confirmed by CASR gene mutation screening. 50 Paraneoplastic hypercalcemia due to the over production by tumor cells of PTH related protein can be distinguish from PHPT because this selected protein is not detected by the common assays used to detect PTH. 51 Other uncommon clinical conditions presenting with hypercalcemia in the ambulatory setting, in which PTH level can also be elevated, are summarized in Table 2; aside from PHPT this condition can be easily differentiated however the diagnosis of hypercalcemia remains complex (Table 2).…”

Section: Diagnosismentioning

confidence: 99%

Primary hyperparathyroidism: epidemiology, clinical features, diagnostic tools and current management

Percivale

Gnerre²,

Damonte³

et al. 2015

Ital J Med

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Primary hyperparathyroidism (PHPT) is a disease caused by overactive secretion of parathyroid hormone (PTH) with a concurrent alteration of the phosphocalcemic metabolism: commonly we found an association between hypercalcemic status and elevated PTH plasma levels or not properly normal. Widespread screening of serum calcium introduced in the 70's has made PHPT a relatively common disease: in these cases hypercalcemia is quickly diagnosed and in the western world the disease tends to appear with not specific symptoms such as fatigue mood disturbance and cognitive impairments.1 The main cause is represented by a solitary parathyroid adenoma (80-85% of cases) (Figure 1): the remaining 15-20% of cases are represented by conditions of diffuse glandular hyperplasia ( Figure 2) and multiple adenomas. A small percentage of patients presents with typical familial forms of multiple endocrine neoplasia type 1 (MEN 1) and multiple endocrine neoplasia type 2 (MEN 2) syndromes.2,3 Primary hyperparathyroidism generally occurs with higher rate in a population older than 55 years: it occurs 2-3 times more frequently in women than in men and has a higher prevalence in postmenopausal women. Approximately 80% of patients with PHPT are asymptomatic being the asymptomatic hypercalcemic form the most representative: signs and symptoms, when present, are due to prolonged hypercalcemic status than to elevate serum levels of PTH. 4,5 The clinical manifestation remains variable ranging from the normocalcemic to the hypercalcemic PHPT form. 6,7 Methods of research ABSTRACTPrimary hyperparathyroidism (PHPT) is a clinical condition characterized by overactive parathyroid gland secretion of parathyroid hormone with concurrent alteration of the phosphocalcemic metabolism. We present a literature review on primary hyperparathyroidism addressing key on clinical presentation, causes, medical and surgical treatment at the best of our knowledge. Based on this review we confirm the role of serum calcium and serum level examination, as well as we define the definitive treatment for PHPT being parathyroidectomy. In case of contraindication for surgery, medical treatment can play a relevant role.

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“…With an inactivating mutation in one copy of the CASR gene, the CASR is relatively insensitive to serum calcium levels and requires higher calcium levels to activate the normal feedback mechanisms. 10 The paradoxical finding of hypocalciuria in the setting of mild to moderate hypercalcemia, normal to mildly elevated PTH, and family history of hypercalcemia are characteristic findings of FHH because of loss-of-function of the CASR in the renal tubule.…”

Section: Commentsmentioning

confidence: 99%

Low 24-hour urine calcium levels in patients with sporadic primary hyperparathyroidism: is further evaluation warranted prior to parathyroidectomy?

O’Connell

Shaker

Wilson

et al. 2015

The American Journal of Surgery

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Differentiating Familial Hypocalciuric Hypercalcemia From Primary Hyperparathyroidism

Cited by 57 publications

References 37 publications

Italian Society of Endocrinology Consensus Statement: definition, evaluation and management of patients with mild primary hyperparathyroidism

Italian Society of Endocrinology Consensus Statement: definition, evaluation and management of patients with mild primary hyperparathyroidism

Primary hyperparathyroidism: epidemiology, clinical features, diagnostic tools and current management

Low 24-hour urine calcium levels in patients with sporadic primary hyperparathyroidism: is further evaluation warranted prior to parathyroidectomy?

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