Neonatal severe hyperparathyroidism: Further clinical and molecular delineation

European Journal of Pediatrics

Volumn 170, Issue 5, 2011, Pages 625-631

  Al Khalaf, Fawziya A ^a   Ismail, Adel ^a   Soliman, Ashraf T ^a   Cole, David E C ^b   Ben Omran, Tawfeg ^a  

^a HAMAD MEDICAL CORPORATION   (Qatar)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

Bisphosphonate; Calcium sensing receptor; Familial hypocalciuric hypercalcemia; Hypercalcemia; Newborn; Severe neonatal hyperparathyroidism

Indexed keywords

ALFACALCIDOL; ALKALINE PHOSPHATASE; BICARBONATE; CALCIFEDIOL; CALCITONIN; CALCIUM; CALCIUM ION; CALCIUM SENSING RECEPTOR; CHLORIDE; COLECALCIFEROL; CREATININE; FUROSEMIDE; GENOMIC DNA; MAGNESIUM; METHOXY ISOBUTYL ISONITRILE TECHNETIUM TC 99M; METHYLENE BLUE; PAMIDRONIC ACID; PARATHYROID HORMONE; PHOSPHATE; POTASSIUM; SODIUM; THYROTROPIN; THYROXINE; UREA;

ALKALINE PHOSPHATASE BLOOD LEVEL; APGAR SCORE; ARTICLE; BICARBONATE BLOOD LEVEL; BIRTH WEIGHT; BLOOD PRESSURE; BODY HEIGHT; BONE DENSITY; BONE TURNOVER; CALCIUM BLOOD LEVEL; CALCIUM URINE LEVEL; CASE REPORT; CHLORIDE BLOOD LEVEL; CONSANGUINEOUS MARRIAGE; CREATININE BLOOD LEVEL; DEHYDRATION; DEMINERALIZATION; ECHOGRAPHY; FEMALE; FEMUR FRACTURE; FEVER; FOLLOW UP; FREE THYROXINE INDEX; GENETIC SCREENING; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HEMOCONCENTRATION; HISTOPATHOLOGY; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; HYDRATION; HYPERCALCEMIA; HYPERPARATHYROIDISM; HYPOCALCEMIA; HYPOMAGNESEMIA; INTENSIVE CARE UNIT; LONG BONE; LYMPHOCYTOPENIA; MAGNESIUM BLOOD LEVEL; METAPHYSIS; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEONATAL SEVERE HYPERPARATHYROIDISM; NEWBORN; NEWBORN DISEASE; NEWBORN SEPSIS; NONSENSE MUTATION; OSTEOLYSIS; PARATHYROID HORMONE BLOOD LEVEL; PARATHYROID HYPERPLASIA; PARATHYROID SCINTISCANNING; PARATHYROIDECTOMY; PHOSPHATE BLOOD LEVEL; PHYSICAL EXAMINATION; POSTOPERATIVE PERIOD; POTASSIUM BLOOD LEVEL; PREDICTION; PRIORITY JOURNAL; RECURRENT DISEASE; REPEAT PROCEDURE; RESPIRATORY DISTRESS; SEIZURE; SIBLING; SODIUM BLOOD LEVEL; SRI LANKA; THYMECTOMY; THYROIDECTOMY; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; UREA BLOOD LEVEL; VITAMIN BLOOD LEVEL; VOMITING; WEIGHT REDUCTION;

CODON, NONSENSE; FEMALE; HOMOZYGOTE; HUMANS; HYPERPARATHYROIDISM, PRIMARY; INFANT, NEWBORN; MUTATION; RECEPTORS, CALCIUM-SENSING;

EID: 79955576867     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-010-1335-z     Document Type: Article

References (36)

1. Bai M, Pearce SH, Kifor O, Trivedi S, Stauffer UG, Thakker RV, Brown EM, Steinmann B (1997) In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. J Clin Invest 99(1):88-96
2. Bambach CP, Reeve TS (1978) Parathyroid identification by methylene blue infusion. Aust N Z J Surg 48(3):314-317 (Pubitemid 9060608)
3. Brown EM (2010) Clinical utility of calcimimetics targeting the extracellular calcium-sensing receptor (CaSR). Biochem Pharmacol 80:297-307
4. Cole DE, Forsythe CR, Dooley JM, Grantmyre EB, Salisbury SR (1997) Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated. J Craniofac Genet Dev Biol 10:205-214
5. Cole DE, Janicic N, Salisbury SR, Hendy GN (1997) Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene. Am J Med Genet 71:202-210
6. Cole DE, Yun FH, Wong BY, Shuen AY, Booth RA, Scillitani A, Pidasheva S, Zhou X, Canaff L, Hendy GN (2009) Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. J Mol Endocrinol 42:331-339
7. Doria AS, Huang C, Makitie O, Thorner P, Kooh SW, Sochett E, Daneman A (2002) Neonatal, severe primary hyperparathyroidism: a 7-year clinical and radiological follow-up of one patient. Pediatr Radiol 32:684-689 (Pubitemid 36067719)
8. D'Souza-Li L, Canaff L, Janicic N, Cole DE, Hendy GN (2001) An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Hum Mutat 18:411-421 (Pubitemid 33055010)
9. Eftekhari F, Yousefzadeh D (1982) Primary infantile hyperparathyroidism: clinical, laboratory, and radiographic features in 21 cases. Skeletal Radiol 8:201-208 (Pubitemid 12042968)
10. Egbuna OI, Brown EM (2008) Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. Best Pract Res Clin Rheumatol 22:129-148 (Pubitemid 351325733)
11. Fox L, Sadowsky J, Pringle KP, Kidd A, Murdoch J, Cole DE, Wiltshire E (2007) Neonatal hyperparathyroidism and pamidronate therapy in an extremely premature infant. Pediatrics 120:e1350-e1354 (Pubitemid 350085578)
12. Goldbloom RB, Gillis DA, Prasad M (1972) Hereditary parathyroid hyperplasia: a surgical emergency of early infancy. Pediatrics 49:514-523
13. Grantmyre E (1973) Roentgenographic features of 'primary' hyperparathyroidism in infancy. J Can Assoc Radiol 24:257-260
14. Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE (2000) Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat 16:281-296
15. Hendy GN, Guarnieri V, Canaff L (2009) Calcium-sensing receptor and associated diseases. Progr Mol Biol Transl Sci 89C:31-95
16. Hendy GN, Guarnieri V, Canaff L (2009) Chapter 3: Calcium-sensing receptor and associated diseases. Prog Mol Biol Transl Sci 89:31-95
17. Ho C, Conner DA, Pollak MR, Ladd DJ, Kifor O, Warren HB, Brown EM, Seidman JG, Seidman CE (1995) A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat Genet 11:389-394
18. Mallet E, Working Group on Calcium Metabolism (2008) Primary hyperparathyroidism in neonates and childhood. The French experience (1984-2004). Horm Res 69:180-188
19. Marx SJ, Attie MF, Spiegel AM, Levine MA, Lasker RD, Fox M (1982) An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. N Engl J Med 306:257-264 (Pubitemid 12165026)
20. Marx SJ, Lasker RD, Brown EM, Fitzpatrick LA, Sweezey NB, Goldbloom RB, Gillis DA, Cole DE (1986) Secretory dysfunction in parathyroid cells from a neonate with severe primary hyperparathyroidism. J Clin Endocrinol Metab 62:445-449 (Pubitemid 16121584)
21. Meeran K, Husain M, Puccini M, Scott H, Dionisi-Vici C, Harvey DR, Lynn J, Thakker RV (1994) Neonatal primary hyperparathyroidism masked by vitamin D deficiency. Clin Endocrinol (Oxf) 41:531-534 (Pubitemid 24301288)
22. Obermannova B, Banghova K, Sumník Z, Dvorakova HM, Betka J, Fencl F, Kolouskova S, Cinek O, Lebl J (2009) Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene. Eur J Pediatr 168(5):569-573
23. Pearce SH, 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 hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 96:2683-2692
24. Pearce SH, Wooding C, Davies M, Tollefsen SE, Whyte MP, Thakker RV (1996) Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis. Clin Endocrinol (Oxf) 45:675-680 (Pubitemid 27032312)
25. Pidasheva S, D'Souza-Li L, Canaff L, Cole DEC, Hendy GN (2004) CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutation 24:107-111 (Pubitemid 39006589)
26. Pollak MR, Chou YH, Marx SJ, Steinmann B, Cole DE, Brandi ML, Papapoulos SE, Menko FH, Hendy GN, Brown EM (1994) Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest 93:1108-1112
27. Southern Reh CM, Hendy GN, Cole DE, Jeandron DD (2010) Neonatal hyperparathyroidism with a de novo heterozygous R185Q calcium-sensing receptor (CASR) mutation: novel use of cinacalcet. J Clin Endocrinol Metab (in press)
28. Specker B (2004) Vitamin D requirements during pregnancy. Am J Clin Nutr 80:1740S-1747S
29. Steinmann B, Gnehm HE, Rao VH, Kind HP, Prader A (1984) Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia. Helv Paediatr Acta 39(2):171-186 (Pubitemid 14118904)
30. Tfelt-Hansen J, Brown EM (2005) The calcium-sensing receptor in normal physiology and pathophysiology: a review. Crit Rev Clin Lab Sci 42:35-70 (Pubitemid 41656709)
31. Waller S, Kurzawinski T, Spitz L, Thakker R, Cranston T, Pearce S, Cheetham T, van't Hoff WG (2004) Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy. Eur J Pediatr 163:589-594
32. Ward BK, Magno AL, Davis EA, Hanyaloglu AC, Stuckey BG, Burrows M, Eidne KA, Charles AK, Ratajczak T (2004) Functional deletion of the calcium-sensing receptor in a case of neonatal severe hyperparathyroidism. J Clin Endocrinol Metab 89:3721-3730 (Pubitemid 39071463)
33. Ward BK, Cameron FJ, Magno AL, McDonnell CM, Stuckey BG, Ratajczak T (2006) A novel homozygous deletion in the calcium-sensing receptor ligand-binding domain associated with neonatal severe hyperparathyroidism. J Pediatr Endocrinol Metab 19:93-100 (Pubitemid 43257426)
34. Wilkinson H, James J (1993) Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia. Arch Dis Child 69:319-321 (Pubitemid 23291353)
35. Wystrychowski A, Pidasheva S, Canaff L, Chudek J, Kokot F, Wiecek A, Hendy GN (2005) Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism. J Clin Endocrinol Metab 90:864-870 (Pubitemid 40279210)
36. Zajickova K, Vrbikova J, Canaff L, Pawelek PD, Goltzman D, Hendy GN (2007) Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status. J Clin Endocrinol Metab 92:2616-2623 (Pubitemid 47037366)