Hypophosphatasia: Clinical and metabolic studies

Teree, Thomas M.; Klein, L.

doi:10.1016/s0022-3476(68)80399-3

Cited by 29 publications

(9 citation statements)

References 11 publications

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“…These treatments may decrease serum calcium levels to some degree but will accelerate further skeletal demineralization or nephrocalcinosis. The serum calcium level of this patient was extremely high compared with those of the reported cases with hypophosphatasia (<15 mg/ dl) [1,10,16]. However, in our case, the serum calcium level was easily decreased by a low calcium diet.…”

Section: Discussioncontrasting

confidence: 70%

“…Several approaches to managing hypercalcaemia associated with hypophosphatasia have been reported. They include the reduction of gastro-intestinal absorption of calcium by dietary calcium restriction [1,16], administration of prednisolone [10] or calcitonin [1], and salt diuresis to increase urinary calcium excretion [1]. These treatments may decrease serum calcium levels to some degree but will accelerate further skeletal demineralization or nephrocalcinosis.…”

Section: Discussionmentioning

confidence: 99%

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Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene

Mochizuki¹,

Saito

Michigami

et al. 2000

European Journal of Pediatrics

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Section: Discussioncontrasting

confidence: 70%

Section: Discussionmentioning

confidence: 99%

Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene

Mochizuki¹,

Saito

Michigami

et al. 2000

European Journal of Pediatrics

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“…These two kindreds modify the belief [Currarino, 1973;Fallonet al, 1984, Weiss et al, 19891 that HP runs true to form in families; in this respect they clearly differ from the reported cases of HP in sibs [Pimstone et al, 1965;Nakanishi et al, 1980;McCance et al, 1956;Teree et al, 1968;Kozlowski et al, 1976;Bethune et al, 1960;Whyte et al, 19821 and from the cases of Chown [1935-361, later considered to be HP [Macpherson et al, 19721. The association of the lethal (perinatal) and the infantile forms, as in kindred A, has been reported twice before [Macpherson et al, 1972;Wladimiroff et al, 19851.…”

Section: Discussionmentioning

confidence: 86%

Phenotypically dissimilar hypophosphatasia in two sibships

1992

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Autosomal dominant and autosomal recessive forms of hypophosphatasia have been reported; generally the clinical picture runs true to form in families. In each of 2 kindreds, 2 sibs were clinically affected by hypophosphatasia to a markedly different extent. One set of sibs showed the lethal (perinatal) and infantile forms. The other showed the dental and adult forms. In both families there was consanguinity, albeit distant, and clinical expression in sibs supporting autosomal recessive inheritance.

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“…Hypophosphatasia is caused by various mutations in the ALPL gene at 1p34–36 (41-44), and is classified into six clinical forms depending on the age at diagnosis and the severity of the symptoms: perinatal lethal; infantile; childhood; adult; odontohypophosphatasia; and perinatal benign. Infantile hypophosphatasia presents before age six months and can cause severe hypercalcemia.…”

Section: Diagnosis Of Hypercalcemia In Neonates and Infantsmentioning

confidence: 99%

Hypercalcemia in children and adolescents

Lietman

Germain‐Lee

Levine

2010

Current Opinion in Pediatrics

112

125

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Purpose of the review-In this review we define hypercalcemia levels, common etiologies for hypercalcemia in children, and treatment in order to aid the practicing pediatrician.Recent Findings-One rare cause of hypercalcemia in the child is Familial hypocalciuric hypercalcemia (FHH) [also termed familial benign hypercalcemia (FBH)]. Mutations that inactivate the Ca 2+ -sensing receptor gene FHH have been described as an autosomal dominant disorder, but recently milder mutations in the CASR have been shown to cause hypercalcemia when homozygous.Summary-Normal serum levels of calcium are maintained through the interplay of parathyroid, renal, and skeletal factors. In this review, we have distinguished the neonate and infant from the older child and adolescent because the causes and clinical features of hypercalcemia can differ in these two age groups. However the initial approach to the medical treatment of severe or symptomatic hypercalcemia is to increase the urinary excretion of calcium in both groups. In most cases, hypercalcemia is due osteoclastic bone resorption, and agents that inhibit or destroy osteoclasts are therefore effective treatments. Parathyroid surgery, the conventional treatment for adults with symptomatic primary hyperparathyroidism, is recommended for all children with primary hyperparathyroidism.

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Hypophosphatasia: Clinical and metabolic studies

Cited by 29 publications

References 11 publications

Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene

Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene

Phenotypically dissimilar hypophosphatasia in two sibships

Hypercalcemia in children and adolescents

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