Familial hypocalciuric hypercalcaemia and acute pancreatitis.

Davies, M.; Klimiuk, P. S.; Adams, Philip C.; Lumb, G. A.; Large, D. M.; Anderson, D. C.

doi:10.1136/bmj.282.6269.1023

Cited by 80 publications

(44 citation statements)

References 14 publications

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“…With respect to clinical correlates of hepatic expression of the CASR, they found a higher incidence of FHH-affected family members with gall stones than in the general population. Some reports (55)(56)(57) have suggested that FHH can be associated with recurrent pancreatitis. Pancreatitis is most often secondary to alcoholism or biliary tract disease and less often to other causes including hyperparathyroidism.…”

Section: Discussionmentioning

confidence: 99%

Extracellular Calcium-sensing Receptor Is Expressed in Rat Hepatocytes

Canaff¹,

Petit²,

Kisiel³

et al. 2001

Journal of Biological Chemistry

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Liver cells respond to changes in Ca 2؉o . The hepatic functions affected include bile secretion, metabolic activity, liver regeneration, and the response to xenobiotics. In the present study, we demonstrate the presence, in the liver, of the extracellular calcium-sensing receptor (CASR), described previously in the parathyroid and thyroid glands and kidney. CASR mRNA was specifically expressed in hepatocytes and was absent in nonparenchymal liver cells (stellate, endothelial, and Kupffer cells). Western blot analysis using a specific CASR antibody showed staining in both whole liver and hepatocyte extracts. Immunohistochemistry and in situ hybridization of rat liver sections showed expression of CASR protein and mRNA by a subset of hepatocytes. The known agonists of the CASR, gadolinium (Gd 3؉ ; 0.5-3.0 mM) and spermine (1.25-20 mM), in the absence of Ca

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Section: Discussionmentioning

confidence: 99%

Extracellular Calcium-sensing Receptor Is Expressed in Rat Hepatocytes

Canaff¹,

Petit²,

Kisiel³

et al. 2001

Journal of Biological Chemistry

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“…The extra measured parameter, serum calcium, rarely exceeds 3.2 mmol/L in FBHH. 1,6,7,9,12,13,18,29,43 In two early extensive reviews, 3,15 occasional values up to 3.5 mmol/L were reported. Therefore, serum calcium may have higher values in PHPT than in FBHH 6,7 and result in a lower calcium:creatinine clearance ratio in some cases, and thus a greater overlap in results.…”

Section: Laboratory Features Of Fbhhmentioning

confidence: 99%

“…The numbers of subjects from each study, with the range and median of the six most commonly studied biochemical parameters overall, are summarized in Table 3. Of the 10 studies, three were of a single large kindred, 1,13,18 ¢ve consisted of series of cases of FBHH and PHPT collected separately over unspeci¢ed time periods, 3,9,12,42,43 and two were prospective studies of unselected cases of hypercalcaemia over a 3-year period in the same hospital. 6,7 A spreadsheet containing the original data from these studies is available at www.acb.org.uk/annclinbiochem/ webwise/ADHHClinBiochem.xls and www.acb.org.uk/ annclinbiochem/webwise/FBHHCalciumdata.xls Table 4 summarizes data for the six most commonly measured biochemical parameters.…”

Section: Laboratory Features Of Fbhhmentioning

confidence: 99%

“…The ¢rst reports were published in 1981. 12,15 A series of 10 cases was reviewed in 1990, 31 showing that all 10 were index cases and eight had another potential cause of pancreatitis. Since then, a further four cases have been reported, including one man with recurrent pancreatitis over many years of persistent hypercalcaemia and an unsuccessful parathyroidectomy.…”

Section: Acute Pancreatitismentioning

confidence: 99%

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Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review

Gunn

Gaffney

2004

Ann Clin Biochem

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Mutations in the calcium-sensing receptor gene (CaSR) may result in disorders of calcium homeostasis manifesting as familial benign hypocalciuric hypercalcaemia (FBHH), neonatal severe hyperparathyroidism (NSHPT) or autosomal dominant hypocalcaemia with hypercalciuria (ADHH). FBHH may have a population prevalence as high as one in 16 000, and ADHH one in 70 000. NSHPT is very rare.The FBHH condition is usually asymptomatic. Parathyroidectomy does not result in normal serum calcium, and no active treatment is indicated. To differentiate FBHH from primary hyperparathyroidism (PHPT), a guideline which includes measurement of serum calcium, intact parathyroid hormone (PTH), magnesium and fasting urinary calcium excretion is proposed. Screening of family members for hypercalcaemia, and occasionally a search for mutations in the CaSR gene, may be required.The NSHPT condition may manifest with hypercalcaemia, (usually) very elevated serum PTH concentration, subperiosteal erosions and fractures. Milder cases may be managed medically, but respiratory failure, extreme hypercalcaemia and failure to thrive are indications for early parathyroidectomy.The ADHH condition may result in asymptomatic hypocalcaemia, but some affected family members have minor symptoms, and a minority experience seizures in infancy which can recur into adulthood. A significant proportion of cases previously reported as idiopathic hypoparathyroidism (IHP) may in fact be due to mutations in the CaSR gene. In a moderately hypocalcaemic patient with no other clearly discernible cause, an elevated urine calcium:creatinine ratio is suggestive of ADHH, as is the presence of a first-degree relative with hypocalcaemia. If treatment with vitamin D analogues is undertaken, serum and urine calcium should be monitored, advice which applies equally to ADHH and IHP.

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“…Clinical experience of FHH is limited, but there is general agreement that with few exceptions the condition is benign. Some patients have presented with acute pancreatitis which has endangered life (Davies et al 1981). The role of parathyroid hor¬ mone in the pathogenesis of FHH is uncertain; immunoassayable parathyroid hormone (iPTH) can often be detected in the serum, sometimes in increased amounts.…”

mentioning

confidence: 99%

Familial hypocalciuric hypercalcaemia: observations on vitamin D metabolism and parathyroid function

Davies

Adams

Berry

et al. 1983

Acta Endocrinologica

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Serum vitamin D metabolites, the renal tubular maximum reabsorptive rate for phosphate (TMP/ GFR) nephrogenic cyclic AMP (NcAMPI, and CaE (urinary calcium excretion per litre of glomerular filtrate) were measured in 14 adults with familial hypocalciuric hypercalcaemia (FHH). The findings were compared with analyses in 14 patients with surgically proven primary hyperparathyroidism matched for serum calcium, creatinine clearance and vitamin D status (assessed by serum concentrations of 25 hydroxyvitamin D). Vitamin D metabolites were also measured in 16 normocalcaemic relatives of patients with FHH. The serum concentration of 24,25 dihydroxycholecalciferol was appropriate for the prevailing 25 hydroxyvitamin D and no difference was found between groups. The serum concentration of 1,25 dihydroxycholecalciferol was significantly greater in primary hyperparathyroidism (P < 0.0005) compared with patients with FHH and their normocalcaemic relatives. TMP/GFR was reduced in both primary hyperparathyroidism (0.53 \m=+-\0.12 mmol/l GF, mean \m=+-\sem) and FHH (0.86 \m=+-\0.14mmol/l GF). Patients with primary hyperparathyroidism showed an increase in NcAMP output in the urine (38.5 \m=+-\16 mmol/l GF) which was significantly greater (P < 0.0001) than the normal NcAMP (13.5 \ m=+-\9.2 nmol/l GF) found in FHH. CaE was low in FHH indicating increased renal tubular reabsorption of calcium.It is concluded that there is no abnormality of vitamin D metabolism in FHH comparable with the changes observed in primary hyperparathyroidism. It is suggested that the biochemical abnormalities in FHH cannot be explained solely upon an increased sensitivity of the renal tubules to the effects of endogenous parathyroid hormone. Foley et al. (1972) first drew attention to a familial form of hypercalcaemia in which, unlike other causes of hypercalcaemia, the urinary excretion of calcium is characteristically low. This condition, -known as familial benign hypercalcaemia or as familial hypocalciuric hypercalcaemia (FHH) (Marx et al. 1977) -is inherited as an autosomaldominant, and closely resembles primary hyper¬ parathyroidism, for which it is commonly mistaken. Clinical experience of FHH is limited, but there is general agreement that with few exceptions the condition is benign. Some patients have presented with acute pancreatitis which has endangered life (Davies et al. 1981). The role of parathyroid hor¬ mone in the pathogenesis of FHH is uncertain; immunoassayable parathyroid hormone (iPTH) can often be detected in the serum, sometimes in increased amounts. The parathyroid glands can appear normal at exploration of the neck, but in some patients all the glands are found to be enlar¬ ged and hyperplastic (Davies et al. 1981).The differentiation of FHH from primary hyperparathyroidism is important because surgical treatment is unsatisfactory and seldom indicatd (Adams 1982). Unfortunately, no single routine biochemical test clearly distinguishes the individual patient with FHH from one with asymptomatic or uncomplicated primary hyperparathyroid...

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Familial hypocalciuric hypercalcaemia and acute pancreatitis.

Abstract: Four families with familial hypocalciuric hypercalcaemia were studied. The probands presented with abdominal pain, which in three was due to acute pancreatitis; in two the condition was life threatening.

Cited by 80 publications

References 14 publications

Extracellular Calcium-sensing Receptor Is Expressed in Rat Hepatocytes

Extracellular Calcium-sensing Receptor Is Expressed in Rat Hepatocytes

Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review

Familial hypocalciuric hypercalcaemia: observations on vitamin D metabolism and parathyroid function

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