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Adipsic diabetes insipidus in a child with dysgenesis of corpus callosum


Authors: L. Kovács;  V. Jankó;  G. Nagyová;  T. Dallos
Authors‘ workplace: 2. detská klinika, Lekárska fakulta Univerzity Komenského a Detskej fakultnej nemocnice s poliklinikou, Bratislava, Slovensko prednosta prof. MUDr. L. Kovács, DrSc., MPH
Published in: Čes-slov Pediat 2014; 69 (1): 12-20.
Category: Case Report

Overview

Rare combined defect of disturbed thirst and vasopressin secretion is associated with increased risk of life threatening episodes of plasma hyperosmolality and hypernatremia. We report a case of adipsic diabetes insipidus associated with dysgenesis of corpus callosum. A 13-year old boy was admitted in a hot summer day complaining for dizziness, muscle cramps and overall weakness. Admission laboratory evaluation revealed serum sodium of 186 mmol/l, plasma osmolality 374 mOsm/kg and urine osmolality of 616 mOsm/kg. After rehydration treatment, he never complained of thirst. Desmopressin treatment was initiated with fixed oral water intake, and on this regimen his serum sodium concentrations stabilized at levels of 148 a 152 mmol/l. Regulation of water homeostasis was evaluated by measuring plasma and urine osmolality. Short-time water restriction and head-up tilt tests were performed to assess osmo- and baroregulated AVP secretion by means of plasma copeptin concentrations. Our findings were consistent with loss of osmoregulatory function of thirst and vasopressin secretion with intact AVP response to baroregulatory stimuli. This may be responsible for production of concentrated urine in the presence of significant volume contraction.

Key words:
adipsic diabetes insipidus, dysgenesis of corpus callosum, hypernatremia, thirst, arginine, vasopressin, copeptin


Sources

1. Robertson GL. Abnormalities of thirst regulation. Kidney Int 1984; 25: 460–469.

2. Kovács L, Lichardus B. Vasopressin: Disturbed Secretion and Its Effects. Dordrecht-Boston-London: Kluwer Academic Publishers, 1989: 1–295.

3. Kovács L, Robertson GL. Disorders of water balance – hyponatraemia and hypernatraemia. Baillieres Clin Endocrinol Metab 1992; 6: 107–127.

4. Hana V, Marek J, Horký K. Syndrom esenciálni hypernatrémie, Čas Lék čes 1986; 125: 1616–1619.

5. DeRubertis FR, Michelis MF, Davis BB. „Essential“ hypernatremia. Report of three cases and review of the literature. Arch Intern Med 1974; 134: 889–893.

6. Crowley RK, Sherlock M, Agha A, et al. Clinical insights into adipsic diabetes insipidus: a large case series. Clin Endocrinol (Oxf) 2007; 66: 475–481.

7. Hayashi T, Murata M, Saito T, et al. Pathogenesis of chronic hypernatremia with dehydrated and non dehydrated states in hypothalamic space-occupying lesions. Endocr J 2008; 55: 651–655.

8. Dunger DB, Seckl JR, Lightman SL. Increased renal sensitivity to vasopressin in two patients with essential hypernatremia. Clin Endocrinol (Oxf) 1985; 22: 469–478.

9. Latcha S, Lubetzky M, Weinstein AM. Severe hyperosmolality and hypernatremia in an adipsic woman. Clin Nephrol 2011; 76: 407–411.

10. Mavrakis AN, Tritos NA. Diabetes insipidus with deficient thirst: report of a patient and review of the literature. Am J Kidney Dis 2008; 51: 851–859.

11. Masera N, Grant DB, Stanhope R, et al. Diabetes insipidus with impaired osmotic regulation in septo-optic dysplasia and agenesis of the corpus callosum. Arch Dis Child 1994; 70: 51–53.

12. Page SR, Nussey SS, Jenkins JS, et al. Hypothalamic disease in association with dysgenesis of the corpus callosum. Postgrad Med J 1989; 65: 163–167.

13. Kovács L, Némethová V, Gucalová Y, et al. Simple diagnosis of diabetes insipidus and antidiuretic hormone excess. Experimental and Clinical Endocrinology 1985; 85: 228–234.

14. Szinnai G, Morgenthaler NG, Berneis K, et al. Changes in plasma copeptin, the c-terminal portion of arginine vasopressin during water deprivation and excess in healthy subjects. J Clin Endocrinol Metab 2007; 92: 3973–3978.

15. McKenna K, Thompson C. Osmoregulation in clinical disorders of thirst appreciation. Clin Endocrinol (Oxf) 1998; 49: 139–152.

16. Robertson GL, Aycinena P, Zerbe RL. Neurogenic disorders of osmoregulation. Am J Med 1982; 72: 339–346.

17. Palevsky PM, Bhagrath R, Greenberg A. Hypernatremia in hospitalized patients. Ann Intern Med 1996; 124: 197–201.

18. Komatsu H, Miyake H, Kakita S, Ikuta H. Hypoplasia of the corpus callosum associated with adipsic hypernatremia and hypothalamic hypogonadotropinism: a case report and review of the literature. Pediatr Int 2001; 43: 683–687.

19. Kovács L, O´Meara N, Weiss R, et al. Abnormal vasopressin secretion and thirst in Shapiro‘s syndrome. Endocrinology 1991; 129 (Suppl 1): 154A.

20. DeRubertis FR, Michelis MF, Beck N, et al. „Essential“ hypernatremia due to ineffective osmotic and intact volume regulation of vasopressin secretion. J Clin Invest 1971; 50: 97–111.

21. Hammond DN, Moll GW, Robertson GL, et al. Hypodipsic hypernatremia with normal osmoregulation of vasopressin. N Engl J Med 1986; 315: 433–437.

22. Holley AD, Green S, Davoren P. Extreme hypernatremia: a case report and brief review. Crit Care Resusc 2007; 9: 55–58.

23. Schaff-Blass E, Robertson GL, Rosenfield RL. Chronic hypernatremia from a congenital defect in osmoregulation of thirst and vasopressin. J Pediatr 1983; 102: 703–707.

24. Smith D, McKenna K, Moore K, et al. Baroregulation of vasopressin release in adipsic diabetes insipidus. J Clin Endocrinol Metab 2002; 87: 4564–4568.

25. Doležel Z. Hyponatrémie a hypernatrémie. Čes-slov Pediat 2004; 59: 18–23.

26. Matoušovic K. Poruchy hospodaření s vodou a sodíkem: dehydratace, hyperhydratace a dysnatrémie. Aktuality v nefrologii 2006; 12: 73–80.

27. Gellai M, Edwards B, Valtin H. Urinary concentrating ability during dehydration in the absence of vasopressin. Am J Physiol 1979; 237: F100–F104.

28. Valtin H, Edwards BR. Berliner-Davidson re-explored. Kidney Int 1987; 31: 634–640.

29. Ball SG, Vaidja B, Baylis PH. Hypothalamic adipsic syndrome: diagnosis and management. Clinical Endocrinology 1997; 47: 405–409.

30. Guo Q, LU J, Dou J, et al. A patient with essential hypernatremia had good response to desmopressin acetate therapy. NeuroEndocrinol Lett 2010; 31: 588–593.

Labels
Neonatology Paediatrics General practitioner for children and adolescents
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