Familial occurrence of idiopathic infantile hypercalcemia

Pediatric Nephrology

Volumn 13, Issue 8, 1999, Pages 668-671

  McTaggart, Steven J ^a   Craig, Jan ^b   MacMillan, John ^b   Burke, John R ^a,c  

^a MATER HOSPITAL   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c PRINCESS ALEXANDRA HOSPITAL   (Australia)

Author keywords

1,25 Dihydroxyvitamin D3; Hypercalciuria; Idiopathic infantile hypercalcemia

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; DIFFERENTIAL DIAGNOSIS; FAMILIAL DISEASE; FEMALE; HUMAN; HYPERCALCEMIA; HYPERCALCIURIA; INFANT; INHERITANCE; MALE; PATHOGENESIS; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; VITAMIN D INTOXICATION; WILLIAMS BEUREN SYNDROME;

ADULT; CALCIUM; CHILD, PRESCHOOL; FEMALE; HUMANS; HYPERCALCEMIA; INFANT; MALE; VITAMIN D; WILLIAMS SYNDROME;

EID: 0032887102     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004670050678     Document Type: Article

References (19)

1. Fanconi G, Girardet P. Schlesinger B, Butler H, Black JS (1952) Chronische Hypercalcemia kombinert mit Osteosklerose, Hyperazotomie, Minderwuchs und kongenitalen Mißbildungen. Helv Paediatr Acta 7:314-334
2. Lightwood R (1952) Idiopathic hypercalcaemia with failure to thrive. Arch Dis Child 27:302-330
3. Martin NDT, Snodgrass GJAI, Cohen RD (1984) Idiopathic infantile hypercalcaemia - a continuing enigma. Arch Dis Child 59:605-613
4. Williams JCP, Barratt-Boyes BG, Lowe JB (1961) Supravalvular aortic stenosis. Circulation 24:1311-1318
5. Black JA, Bonham Carter RE (1963) Association between aortic stenosis and cases of severe infantile hypercalcaemia. Lancet II:745-749
6. 3 in children with infantile hypercalcaemia. Pediatr Nephrol 11:2-6
7. Mizusawa Y, Burke JR (1996) Prednisolone and cellulose phosphate treatment in idiopathic infantile hypercalcaemia with nephrocalcinosis. J Paediatr Child Health 32:350-352
8. Thakker RV (1996) Molecular genetics of parathyroid disease. Curr Opin Endocrinol Diabetes 3:521-528
9. Karlowicz MG, Adelman RD (1995) Renal calcification in the first year of life. Pediatr Clin North Am 42:1397-1413
10. Langman CB, Budayr AA, Sailer, Strewler GJ (1992) Nonmalignant expression of parathyroid hormone-related protein is responsible for idiopathic infantile hypercalcemia. J Bone Miner Res 7:593S
11. Mehes K, Szelid A, Toth P (1975) Possible dominant inheritance of the idiopathic hypercalcaemic syndrome. Hum Hered 25:30
12. Pollack MR, Chou YHW, Marx SJ, Steinmann B, Cole DE, Brandi ML, Papapoulos SE, Menko FH, Hendy GN, Brown EM, Seidman CE, Seidman JG (1994) Familial hypocalciuric hypercalcaemic and neonatal severe hyperparathyroidism: effects of mutant gene dosage on phenotype. J Clin Invest 93:1108-1112
13. Pearce SHS, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, Thakker RV (1995) Calcium-sensing receptor mutations in familial benign hypercalcaemia and neonatal hyperparathyroidism. J Clin Invest 96:2683-2692
14. Wilkinson H, James J (1993) Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia. Arch Dis Child 69:319-321
15. Page LA, Haddow JE (1987) Self limited neonatal hyperparathyroidism in familial hypocalciuric hypercalcaemia. J Pediatr 111:261-264
16. Gauthier B (1998) X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 53:3-17
17. Scheinman SJ (1998) X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 53:3-17
18. Langman CB (1996) Hypercalcemic syndromes in infants and children. In: Favus MJ (ed) Primer on the metabolic bone diseases and disorders of mineral metabolism, 3rd edn. Lippincott-Raven, Philadelphia, pp 209-212
19. Suarez F, Zeghoud F, Rossignol C, Walrant O, Garabedian (1997) Association between vitamin D receptor gene polymorphism and sex-dependent growth during the first two years of life. J Clin Endocrinol Metab 82:2966-2970