Resistance to Parathyroid Hormone in Two Patients with Familial Intrahepatic Cholestasis: Possible Involvement of the ATP8B1 Gene in Calcium Regulation via Parathyroid Hormone

Journal of Pediatric Gastroenterology and Nutrition

Volumn 39, Issue 4, 2004, Pages 404-409

  Nagasaka, Hironori ^a   Yorifuji, Tohru ^a   Kosugiyama, Kiyotaka ^a   Egawa, Hiroto ^a   Kawai, Masahiko ^a   Murayama, Kei ^a   Hasegawa, Makoto ^a   Sumazaki, Ryo ^a   Tsubaki, Junko ^a   Kikuta, Hideaki ^a   Matsui, Akira ^a   Tanaka, Koichi ^a   Matsuura, Nobuo ^a   Kobayashi, Kunihiko ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

2,7 BIS(1H INDOL 2 YL)ETHYNYL 1,8 NAPHTHYRIDINE; 2,7-BIS(1H-INDOL-2-YL)ETHYNYL-1,8-NAPHTHYRIDINE; ADENOSINE TRIPHOSPHATASE; ATP8B1 PROTEIN, HUMAN; CALCIUM; CYCLIC AMP; CYTOKINE; INDOLE DERIVATIVE; NAPHTHYRIDINE DERIVATIVE; OSTEOCALCIN; PARATHYROID HORMONE; PEPTIDE FRAGMENT; PROCOLLAGEN; PROCOLLAGEN TYPE I CARBOXY TERMINAL PEPTIDE;

ADULT; ARTICLE; BLOOD; BONE; CASE REPORT; DRUG RESISTANCE; FEMALE; GENETICS; HOMEOSTASIS; HUMAN; HYPOCALCEMIA; INTRAHEPATIC CHOLESTASIS; MALE; METABOLISM; MUTATION; PHYSIOLOGY;

ADENOSINE TRIPHOSPHATASES; ADULT; BONE AND BONES; CALCIUM; CHOLESTASIS, INTRAHEPATIC; CYCLIC AMP; CYTOKINES; DRUG RESISTANCE; FEMALE; HOMEOSTASIS; HUMANS; HYPOCALCEMIA; INDOLES; MALE; MUTATION; NAPHTHYRIDINES; OSTEOCALCIN; PARATHYROID HORMONE; PEPTIDE FRAGMENTS; PROCOLLAGEN;

EID: 25144441493     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/00005176-200410000-00018     Document Type: Article

References (30)

1. Whitington PF, Freese DK, Sharp HL. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994;18:134-41.
2. Jacquemin E. Progressive familial intrahepatic cholestasis. J Gastroenterol Hepatol 1999;14:594-9.
3. Oude Elferink RP, van Berge Henegouwen GP. Cracking the genetic code for benign recurrent and progressive familial intrahepatic cholestasis. J Hepatol 1998;29:317-20.
4. Bull LN, van Eijk MJ, Pawlikowska L, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998;18:219-24.
5. Bull LN, Carlton VE, Stricker NL. Genetic and morphologic findings in progressive familial intrahepatic cholestasis: evidence for heterogeneity. Hepatology 1997;26:155-64.
6. Summerskill WHJ, Walshe JM. Benign recurrent intrahepatic obstructive cholestasis. Lancet 1959;ii:686-90.
7. Brenard R, Geubel AP, Benhamou JP. Benign recurrent intrahepatic cholestasis: a report of 26 cases. J Clin Gastroenterol 1989; 11:546-51.
8. Bucuvalas JC, Heubi JE, Specker BL, et al. Calcium absorption in bone disease associated with chronic cholestasis during childhood. Hepatology 1990;12:1200-5.
9. Heubi JE, Hollis BW, Specker B, Tsang RC. Bone disease in chronic childhood cholestasis. I. Vitamin D absorption and metabolism. Hepatology 1989;9: 258-64.
10. Bouillon R, Auwerx J, Dekeyser L, et al. Serum vitamin D metabolites and their binding protein in patients with liver cirrhosis. J Clin Endocrinol Metab 1984;59:86-9
11. Heubi JE, Higgins JV, Argao EA, Sierra RI, Specker BL. The role of magnesium in the pathogenesis of bone disease in childhood cholestatic liver disease: a preliminary report. J Pediatr Gastroenterol Nutr 1997;25:301-6.
12. Bonkovsky HL, Hawkins M, Steinberg K, et al. Prevalence and prediction of osteopenia in chronic liver disease. Hepatology 1990; 12:273-80
13. Nielsen HK, Lundby L, Rasmussen K, Charles P, Hansen C. Alcohol diseases serum osteocalcin in a dose dependent way in normal subjects. Calcified Tissue Int 1990;46:173-8.
14. Hodgson SF, Dickson ER, Wahner HW, Johnson KA, Mann KG, Riggs BL. Bone loss and reduced osteoblast function in primary biliary cirrhosis. Ann Intern Med 1985;103:855-60.
15. Stellon AJ, Webb A, Compson J, Williams R. Low bone turnover state in primary biliary cirrhosis. Hepatology 1987;7:137-42.
16. Nagant de Deuxchaisnes C, Krane SM. Hypoparathyroidism. In: Avioli LV, Krane SM, eds. Metabolic bone disease, Vol. 2. New York: Academic Press, 1978:217.
17. Singhellakis P, Pappas A, Nicolou CH, Ikkos D WF. Separation of pseudohypoparathyroidism into types I and II using only basal nephrogenous cAMP determinations. Endocrinologie 1991;29: 67-71.
18. Carter A, Bardin C, Collins R, et al. Reduced expression of multiple forms of the alpha subunit of the stimulatory GTP-binding protein in pseudohypoparathyroidism type Ia. Proc Natl Acad Sci U S A 1987;84:7266-9.
19. Minagawa M, Watanabe T, Kohno Y, et al. Analysis of the P3 promotor of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene in pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab 2001;86:1394-7.
20. Yamada K, Tamura Y, Tomioka H, Kumagai A, Yoshida S. Possible existence of anti-renal tubular plasma membrane autoantibody, which blocked parathyroid hormone-induced phosphaturia in a patient with pseudohypoparathyroidism type II and Sjogren’s syndrome. J Clin Endoclinol Metab 1984;58:339-43.
21. Saito H, Saito M, Saito K, et al. Subclinical pseudohypoparathyroidism II: evidence for failure of physiologic adjustment in calcium metabolism during pregnancy. Am J Med Sci 1989;297: 247-50
22. Drezner M, Neelson FA, Levovitz HF. Pseudohypoparathyroidism type II-a: possible defect in the reception of the cyclic AMP signal. N Engl J Med 1973;289:1056-60.
23. Khosla S. Minireview: the OPG/RANKL/RANK system. Endocrinology 2001;142:5050-5.
24. Hofbauer LC, Gori F, Riggs BL, et al. Stimulation of osteoprotegrin ligand and inhibition of osteoprotegrin production by glucocorticoids in human osteoblastic lineage cells: potential paracrine mechanisms of glucocorticoid-induced osteoporosis. Endocrinology 1999;140:4382-9.
25. Szulc P, Hofbauer LC, Heufelder AE, Roth S, Delmas PD. Osteoprotegerin serum levels in men: correlation with age, estrogen, and testosterone status. J Clin Endocrinol Metab 2001;86:3162-5.
26. Khosla S, Atkinson EJ, Dunstan CR, O’Fallon WM. Effect of estrogen versus testosterone on circulating osteoprotegrin and other cytokine levels in normal elderly men. J Clin Endocrinol Metab 2002;87:1550-4.
27. Ahmad AM, Thomas J, Clewes A, et al. Effects of growth hormone replacement on parathyroid hormone sensitivity and bone mineral metabolism. J Clin Endocrinol Metab 2003;88:2860-8.
28. Bassett JH, Williams GR. The molecular actions of thyroid hormone in bone. Trends Endocrinol Metab 2003;14:356-64.
29. Takayanagi H, Ogasawara K, Hida S, et al. T-cell-mediated regulation of osteoclastgenesis by signalling cross-talk between RANKL and IFN-gamma. Nature 2000;408:600-5.
30. Takayanagi H, Kim S, Matsuo K, et al. RANKL maintains bone homeostasis through c-Fos-dependent induction of interferon-beta. Nature 2002;416:744-9.