Familial hyperparathyroidism

Peters, Nicholas; Chalmers, T. M.; Truscott, Brian McN.; Rack, J. H.; Adams, Philip C.

doi:10.1136/pgmj.42.486.228

Cited by 12 publications

(10 citation statements)

References 18 publications

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“…The distribution of the cases in this family is suggestive of an autosomal dominant mode of inheritance, as has been found in 89 previous families (Cutler et al, 1964;Peters et al, 1966). The tendency to affect young people noted by Peters et al is confirmed here.…”

Section: Discussionsupporting

confidence: 90%

“…The literature, however, contains descriptions of 16 families in which hyperparathyroidism is reported as occurring in more than one member in the absence of other endocrine disorders (Peters et al, 1966;Schachner et al, 1966;Graber and Jacobs, 1968). It has been proposed that this represents a separate syndrome, but it may well be a partial expression of the same disorder (Cutler et al, 1964).…”

Section: Introductionmentioning

confidence: 99%

“…The tendency since has been to regard primary chief cell hyperplasia as the typical pathological change (Cutler et al, 1964;Peters et al, 1966). Cope et al (1958) considered that cases with this histological appearance showed a strong tendency to recurrence and that they should be treated by total resection of three glands and a partial resection of the remaining gland.…”

Section: Introductionmentioning

confidence: 99%

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Familial Hyperparathyroidism

Marsden¹,

Anderson²,

Doyle³

et al. 1971

BMJ

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SummaryTwenty-eight members of a family over three generations were studied; six of them had hyperparathyroidism. Four of the six were siblings and one of these had suffered from recurrent hyperparathyroidism. No member of the family showed any other significant endocrine disturbance or active peptic ulceration.Attention is drawn to the prominent lack of symptoms despite dangerous levels of hypercalcaemia and advanced disease with the consequent need for estimation of serum calcium levels in all close relatives. Multiple gland involvement is common in familial hyperparathyroidism and is often coupled with a tendency to recurrence, necessitating long-term follow-up. Histological appearances vary considerably, and the risk of recurrence is not limited to cases showing primary chief cell hyperplasia, with the implication that resection of three parathyroid glands and part of the remaining gland may be the treatment of choice in all cases of familial hyperparathyroidism when multiple gland involvement is found.

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Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Familial Hyperparathyroidism

Marsden¹,

Anderson²,

Doyle³

et al. 1971

BMJ

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“…In MEA Type 1 hyperparathyroidism is the commonest presenting feature and other manifestations may be delayed for many years or appear only in relatives. The importance of long-term family surveillance is illustrated by the following case study which brings up to date the story of a family previously reported as an example of familial primary hyperparathyroidism due to chief cell hyperplasia (Adams et al, 1965;Peters et al, 1966 cell hyperplasia. Hypocalcaemia developed after the last of these operations and serum calcium concentration was subsequently maintained within normal limits with two tablets of calcium and vitamin D BPC (1000 i.u.)…”

Section: Introductionmentioning

confidence: 99%

Multiple endocrine adenomatosis (Type I) and familial hyperparathyroidism

Jung

Grant

Davie

et al. 1978

Postgraduate Medical Journal

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Summary Hyperparathyroidism is the commonest presenting feature in multiple endocrine adenomatosis Type I (MEA Type I), the other manifestations may be delayed for many years or appear only in relatives. A family now diagnosed as MEA Type I, who was previously thought, in 1965, to have familial hyperparathyroidism due to chief cell hyperplasia is now described. The importance is stressed of family surveillance and long-term follow-up in all cases of primary hyperparathyroidism. Those tests that are essential in the long-term surveillance of the patients and their first degree relatives are discussed.

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“…Unfortunately, no single routine biochemical test clearly distinguishes the individual patient with FHH from one with asymptomatic or uncomplicated primary hyperparathyroidism. The discovery of hypercalcaemia in another member of the family should suggest the diagnosis, but this is not confirmatory, since primary hyperparathyroi¬ dism is also sometimes familial (Peters et al 1966). Vitamin D, through the actions of its effector metabolite 1,25 dihydroxycholecalciferol (1,25-(OH)2D3) plays a central role in bone and calcium metabolism.…”

mentioning

confidence: 96%

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 hyperparathyroidism

Cited by 12 publications

References 18 publications

Familial Hyperparathyroidism

Familial Hyperparathyroidism

Multiple endocrine adenomatosis (Type I) and familial hyperparathyroidism

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

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