Hypoparathyroidism and central diabetes insipidus: in search of the link

European Journal of Pediatrics

Volumn 173, Issue 12, 2014, Pages 1731-1734

  Eyal, Ori ^a,b   Oren, Asaf ^a,b   Jüppner, Harald ^c   Somech, Raz ^b,d   De Bellis, Annamaria ^e   Mannstadt, Michael ^c   Szalat, Auryan ^f   Bleiberg, Margalit ^a   Weisman, Yosef ^a,b   Weintrob, Naomi ^a,b  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d SHEBA MEDICAL CENTER   (Israel)

^e SECOND UNIVERSITY OF NAPLES   (Italy)

^f HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Autoimmune polyendocrine syndrome type 1 (APS1); Central diabetes insipidus; Hypoparathyroidism

Indexed keywords

ALFACALCIDOL; CALCIUM; CALCIUM CARBONATE; DESMOPRESSIN ACETATE; HORMONE ANTIBODY; MAGNESIUM CITRATE; UNCLASSIFIED DRUG; VASOPRESSIN ANTIBODY; AUTOIMMUNE REGULATOR PROTEIN; DNA; PARATHYROID HORMONE; TRANSCRIPTION FACTOR;

ADOLESCENT; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; BENIGN CHILDHOOD EPILEPSY; CALCIUM BLOOD LEVEL; CASE REPORT; CHILD; CHILDHOOD DISEASE; DIABETES INSIPIDUS; EGYPTIAN; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; HYPOCALCEMIA; HYPOMAGNESEMIA; HYPOPARATHYROIDISM; IRAQI; JEW; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYDIPSIA; POLYURIA; PRIORITY JOURNAL; REGULATOR GENE; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; BLOOD; GENETICS; HOMOZYGOTE; MUTATION; NEUROGENIC DIABETES INSIPIDUS; NUCLEOTIDE SEQUENCE; PEDIGREE;

ADOLESCENT; CHILD; DIABETES INSIPIDUS, NEUROGENIC; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HOMOZYGOTE; HUMANS; HYPOPARATHYROIDISM; MALE; MUTATION; PARATHYROID HORMONE; PEDIGREE; SIBLINGS; TRANSCRIPTION FACTORS;

EID: 84922005664     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-014-2448-6     Document Type: Article

References (29)

1. Alimohammadi M, Björklund P, Hallgren A, Pöntynen N, Szinnai G, Shikama N, Keller MP, Ekwall O, Kinkel SA, Husebye ES, Gustafsson J, Rorsman F, Peltonen L, Betterle C, Perheentupa J, Akerström G, Westin G, Scott HS, Holländer GA, Kämpe O (2008) Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med 358:1018–1028
2. Baron J, Winer KK, Yankovski JA, Yankovski JA, Cunningham AW, Laue L, Zimmerman D, Cutler GB Jr (1996) Mutations in the Ca2+-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet 5:601–606
3. Bensing S, Fetissov SO, Mulder J, Muldr J, Perheentupa J, Gustafsson J, Husebye ES, Oscarson M, Ekwall O, Crock PA, Hökfelt T, Hulting AL, Kampe O (2007) Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. PNAS 104:949–954
4. Betterle C, Dal Pra C, Mantero F, Zanchetta R (2002) Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr Rev 23:327–364
5. Björses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L (2000) Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet 66:378–392
6. Bowl MR, Nesbit MA, Harding B, Levy E, Jefferson A, Volpi E, Rizzoti K, Lovell-Badge R, Schlessinger D, Whyte MP, Thakker RV (2005) An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, caused X-linked recessive hypoparathyroidism. J Clin Invest 115:2822–2831
7. De Bellis A, Sinisi AA, Pane E, Dello lacovo A, Bellastella G, Di Scala G, Falorni A, Giavoli C, Gasco V, Giordano R, Ambrosio R, Colao A, Bizzarro A, Bellastella A (2012) Involvement of hypothalamus autoimmunity in patients with autoimmune hypopituitarism: role of antibodies to hypothalamic cells. J Clin Endocrinol Metab 97:3684–3690
8. De Sanctis V, Soliman A, Fiscina B (2012) Hypoparathyroidism: from diagnosis to treatment. Curr Opin Endocrinol Diabetes Obes 19:435–442
9. Gavalas N, Kemp E, Krohn K, Brown E, Watson P, Weetman A (2007) The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab 92:2107–2114
10. Gruberg L, Aksentijevich I, Pras E, Kastner DL, Pras M (1992) Mapping of the familial Mediterranean fever gene to chromosome 16. Am J Reprod Immunol 28:241–242
11. Haller MJ, Winter WE, Schatz DA (2014) Autoimmune polyglandular syndromes. In: Sperling MA (ed) Pediatric endocrinology, 4th edn. Saunders, Philadelphia, pp 907–912
12. Hung SO, Patterson A (1984) Ectodermal dysplasia associated with autoimmune disease. Br J Ophthalmol 68:367–369
13. Kemp EH, Gavalas NG, Krohn KJ, Brown EM, Watson PF, Weetman AP (2009) Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab 94:4749–4756
14. Laron Z, Pertzelan A, Mannheimer S (1996) Genetic pituitary dwarfism with high serum concentration of growth hormone—a new inborn error of metabolism? Isr J Med Sci 2:152–155
15. Li D, Opas EE, Tuluc F, Metzger DL, Hou C, Hakonarson H, Levine MA (2014) Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization. J Clin Endocrinol Metab 99:E1774–E1783
16. Lintas C, Cappa M, Comparcola D, Nobili V, Fierabracci A (2008) An 8-year-old boy with autoimmune hepatitis and Candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): identification of a new homozygous mutation in the autoimmune regulator gene (AIRE). Eur J Pediatr 167:949–953
17. Mannstadt M, Bertrand G, Muresan M, Muresan M, Weryha G, Leheup B, Pulusani SR, Grandchamp B, Jüppner H, Silve C (2008) Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism. J Clin Endocrinol Metab 93:3568–3576
18. Mannstadt M, Harris M, Bravenboer B, Chitturi S, Dreijerink KM, Lambright DG, Lim ET, Daly MJ, Gabriel S, Jüppner H (2013) Germline mutations affecting Galpha11 in hypoparathyroidism. N Engl J Med 368:2532–2534
19. Meloni A, Willcox N, Meager A, Atzeni M, Wolff ASB, Husebye ES, Furcas M, Rosatelli MC, Cao A, Congia M (2012) Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. J Clin Endocrinol Metab 97:1114–1124
20. Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV (2013) Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. N Engl J Med 368:2476–2486
21. Parkinson DB, Thakker RV (1992) A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nat Genet 1:149–152
22. Perheentupa J (2006) Autoimmune ployendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 91:2843–2850
23. Rabbani B, Tekin M, Mahdieh N (2014) The promise of whole-exome sequencing in medical genetics. J Hum Genet 59:5–15
24. Root AW, Diamond FB (2008) Disorders of mineral homeostasis in the newborn, infant, child and adolescent. In: Sperling MA (ed) Pediatric endocrinology, 3rd edn. Saunders, Philadelphia, pp 686–769
25. Scherbaum WA, Wass JAH, Besser GM, Bottazzo GF, Doniach D (1986) Autoimmune cranial diabetes insipidus: its association with other endocrine diseases and with histiocytosis X. Clin Endocrinol 25:411–420
26. Stock JL, Brown RS, Baron J, Coderre JA, Mancilla E, De Luca F, Ray K, Mericq MV (1999) Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. J Clin Endocrinol Metab 84:3036–3040
27. Tomar N, Kaushal E, Das M, Gupta N, Betterle C, Goswami R (2012) Prevalence and significance of NALP5 autoantibodies in patients with idiopathic hypoparathyroidism. J Clin Endocrinol Metab 97:1219–1226
28. Zlotogora J (2014) Mendelian disorders among Jews from Iran and Iraq. http://www.health.gov.il/Subjects/Genetics/Documents/tablejews.pdf
29. Zolotogora J, Shapiro MS (1992) Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet 29:824–826