Skip to main content
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 2003 May;88(5):403–407. doi: 10.1136/adc.88.5.403

The investigation of hypocalcaemia and rickets

J Singh 1, N Moghal 1, S Pearce 1, T Cheetham 1
PMCID: PMC1719571  PMID: 12716711

Full Text

The Full Text of this article is available as a PDF (137.8 KB).

Figure 1.

Figure 1

Calculate % TRP and then use this and the serum phosphate to calculate TmP/GFR from the nomogram: % TRP = 1 - (UP x Pcrea)/(Pp x Ucrea). The inner axes are mmol/l and the outer axes mg/100 ml.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Ahmed I., Atiq M., Iqbal J., Khurshid M., Whittaker P. Vitamin D deficiency rickets in breast-fed infants presenting with hypocalcaemic seizures. Acta Paediatr. 1995 Aug;84(8):941–942. doi: 10.1111/j.1651-2227.1995.tb13798.x. [DOI] [PubMed] [Google Scholar]
  2. Alscher D. M., Mettang T., Kuhlmann U. Cure of lifelong fatigue by calcium supplementation. Lancet. 2001 Sep 15;358(9285):888–888. doi: 10.1016/S0140-6736(01)06074-3. [DOI] [PubMed] [Google Scholar]
  3. Arnold A., Horst S. A., Gardella T. J., Baba H., Levine M. A., Kronenberg H. M. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J Clin Invest. 1990 Oct;86(4):1084–1087. doi: 10.1172/JCI114811. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Brodehl J., Krause A., Hoyer P. F. Assessment of maximal tubular phosphate reabsorption: comparison of direct measurement with the nomogram of Bijvoet. Pediatr Nephrol. 1988 Apr;2(2):183–189. doi: 10.1007/BF00862587. [DOI] [PubMed] [Google Scholar]
  5. Brown E. M., Gamba G., Riccardi D., Lombardi M., Butters R., Kifor O., Sun A., Hediger M. A., Lytton J., Hebert S. C. Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid. Nature. 1993 Dec 9;366(6455):575–580. doi: 10.1038/366575a0. [DOI] [PubMed] [Google Scholar]
  6. Ding C., Buckingham B., Levine M. A. Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. J Clin Invest. 2001 Oct;108(8):1215–1220. doi: 10.1172/JCI13180. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Econs M. J., McEnery P. T. Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. J Clin Endocrinol Metab. 1997 Feb;82(2):674–681. doi: 10.1210/jcem.82.2.3765. [DOI] [PubMed] [Google Scholar]
  8. Ghazali S., Barratt T. M. Urinary excretion of calcium and magnesium in children. Arch Dis Child. 1974 Feb;49(2):97–101. doi: 10.1136/adc.49.2.97. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Holm I. A., Nelson A. E., Robinson B. G., Mason R. S., Marsh D. J., Cowell C. T., Carpenter T. O. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab. 2001 Aug;86(8):3889–3899. doi: 10.1210/jcem.86.8.7761. [DOI] [PubMed] [Google Scholar]
  10. Hughes M. R., Malloy P. J., Kieback D. G., Kesterson R. A., Pike J. W., Feldman D., O'Malley B. W. Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science. 1988 Dec 23;242(4886):1702–1705. doi: 10.1126/science.2849209. [DOI] [PubMed] [Google Scholar]
  11. Jüppner H. Receptors for parathyroid hormone and parathyroid hormone-related peptide: exploration of their biological importance. Bone. 1999 Jul;25(1):87–90. doi: 10.1016/s8756-3282(99)00110-6. [DOI] [PubMed] [Google Scholar]
  12. Kitanaka S., Takeyama K., Murayama A., Sato T., Okumura K., Nogami M., Hasegawa Y., Niimi H., Yanagisawa J., Tanaka T. Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. N Engl J Med. 1998 Mar 5;338(10):653–661. doi: 10.1056/NEJM199803053381004. [DOI] [PubMed] [Google Scholar]
  13. Lania A., Mantovani G., Spada A. G protein mutations in endocrine diseases. Eur J Endocrinol. 2001 Nov;145(5):543–559. doi: 10.1530/eje.0.1450543. [DOI] [PubMed] [Google Scholar]
  14. Lawson M., Thomas M. Vitamin D concentrations in Asian children aged 2 years living in England: population survey. BMJ. 1999 Jan 2;318(7175):28–28. doi: 10.1136/bmj.318.7175.28. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Linglart Agnès, Carel Jean Claude, Garabédian Michèle, Lé Tran, Mallet Eric, Kottler Marie Laure. GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metab. 2002 Jan;87(1):189–197. doi: 10.1210/jcem.87.1.8133. [DOI] [PubMed] [Google Scholar]
  16. Narchi H., El Jamil M., Kulaylat N. Symptomatic rickets in adolescence. Arch Dis Child. 2001 Jun;84(6):501–503. doi: 10.1136/adc.84.6.501. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Parkinson D. B., Thakker R. V. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nat Genet. 1992 May;1(2):149–152. doi: 10.1038/ng0592-149. [DOI] [PubMed] [Google Scholar]
  18. Pearce S. H., Cheetham T. D. Autoimmune polyendocrinopathy syndrome type 1: treat with kid gloves. Clin Endocrinol (Oxf) 2001 Apr;54(4):433–435. doi: 10.1046/j.1365-2265.2001.01250.x. [DOI] [PubMed] [Google Scholar]
  19. Pearce S. H., Cheetham T., Imrie H., Vaidya B., Barnes N. D., Bilous R. W., Carr D., Meeran K., Shaw N. J., Smith C. S. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. Am J Hum Genet. 1998 Dec;63(6):1675–1684. doi: 10.1086/302145. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Pearce S. H., Williamson C., Kifor O., Bai M., Coulthard M. G., Davies M., Lewis-Barned N., McCredie D., Powell H., Kendall-Taylor P. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med. 1996 Oct 10;335(15):1115–1122. doi: 10.1056/NEJM199610103351505. [DOI] [PubMed] [Google Scholar]
  21. Pfitzner M. A., Thacher T. D., Pettifor J. M., Zoakah A. I., Lawson J. O., Isichei C. O., Fischer P. R. Absence of vitamin D deficiency in young Nigerian children. J Pediatr. 1998 Dec;133(6):740–744. doi: 10.1016/s0022-3476(98)70143-x. [DOI] [PubMed] [Google Scholar]
  22. Rowe P. S. The molecular background to hypophosphataemic rickets. Arch Dis Child. 2000 Sep;83(3):192–194. doi: 10.1136/adc.83.3.192. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Sayer J. A., Pearce S. H. Diagnosis and clinical biochemistry of inherited tubulopathies. Ann Clin Biochem. 2001 Sep;38(Pt 5):459–470. doi: 10.1177/000456320103800503. [DOI] [PubMed] [Google Scholar]
  24. Shaw N. J., Pal B. R. Vitamin D deficiency in UK Asian families: activating a new concern. Arch Dis Child. 2002 Mar;86(3):147–149. doi: 10.1136/adc.86.3.147. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Shaw N. J., Wheeldon J., Brocklebank J. T. Indices of intact serum parathyroid hormone and renal excretion of calcium, phosphate, and magnesium. Arch Dis Child. 1990 Nov;65(11):1208–1211. doi: 10.1136/adc.65.11.1208. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Shimada T., Mizutani S., Muto T., Yoneya T., Hino R., Takeda S., Takeuchi Y., Fujita T., Fukumoto S., Yamashita T. Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci U S A. 2001 May 8;98(11):6500–6505. doi: 10.1073/pnas.101545198. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Smith Dominic, Stringer Mark D., Wyatt Judy, O'Meara Moira, Davison Suzanne, Cheetham Tim D., McClean Patricia. Orthotopic liver transplantation for acute liver failure secondary to autoimmune hepatitis in a child with autoimmune polyglandular syndrome type 1. Pediatr Transplant. 2002 Apr;6(2):166–170. doi: 10.1034/j.1399-3046.2002.01063.x. [DOI] [PubMed] [Google Scholar]
  28. Thacher T. D., Fischer P. R., Pettifor J. M., Lawson J. O., Isichei C. O., Chan G. M. Case-control study of factors associated with nutritional rickets in Nigerian children. J Pediatr. 2000 Sep;137(3):367–373. doi: 10.1067/mpd.2000.107527. [DOI] [PubMed] [Google Scholar]
  29. Van Esch H., Groenen P., Nesbit M. A., Schuffenhauer S., Lichtner P., Vanderlinden G., Harding B., Beetz R., Bilous R. W., Holdaway I. GATA3 haplo-insufficiency causes human HDR syndrome. Nature. 2000 Jul 27;406(6794):419–422. doi: 10.1038/35019088. [DOI] [PubMed] [Google Scholar]
  30. Walton R. J., Bijvoet O. L. Nomogram for derivation of renal threshold phosphate concentration. Lancet. 1975 Aug 16;2(7929):309–310. doi: 10.1016/s0140-6736(75)92736-1. [DOI] [PubMed] [Google Scholar]
  31. Watanabe Sumiyo, Fukumoto Seiji, Chang Hangil, Takeuchi Yasuhiro, Hasegawa Yukihiro, Okazaki Ryo, Chikatsu Noriko, Fujita Toshiro. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet. 2002 Aug 31;360(9334):692–694. doi: 10.1016/S0140-6736(02)09842-2. [DOI] [PubMed] [Google Scholar]
  32. White K. E., Jonsson K. B., Carn G., Hampson G., Spector T. D., Mannstadt M., Lorenz-Depiereux B., Miyauchi A., Yang I. M., Ljunggren O. The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. J Clin Endocrinol Metab. 2001 Feb;86(2):497–500. doi: 10.1210/jcem.86.2.7408. [DOI] [PubMed] [Google Scholar]
  33. Whyte M. P., Schranck F. W., Armamento-Villareal R. X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab. 1996 Nov;81(11):4075–4080. doi: 10.1210/jcem.81.11.8923863. [DOI] [PubMed] [Google Scholar]
  34. Wilichowski E., Grüters A., Kruse K., Rating D., Beetz R., Korenke G. C., Ernst B. P., Christen H. J., Hanefeld F. Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome. Pediatr Res. 1997 Feb;41(2):193–200. doi: 10.1203/00006450-199702000-00007. [DOI] [PubMed] [Google Scholar]
  35. Yamamoto M., Akatsu T., Nagase T., Ogata E. Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders? J Clin Endocrinol Metab. 2000 Dec;85(12):4583–4591. doi: 10.1210/jcem.85.12.7035. [DOI] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES