Five siblings with hypokalaemia, hypomagnesaemia and hypocalciuria (Gitelman's syndrome) in one family;Vijf kinderen met hypokaliemie, hypomagnesiemie en hypocalciurie (Gitelman-syndroom) in een gezin

Nederlands Tijdschrift voor Geneeskunde

Volumn 141, Issue 35, 1997, Pages 1698-1701

  Schweizer, J J ^a   Van Collenburg, J J M ^a  

^a Sophia Hospital   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; FAMILIAL DISEASE; FEMALE; HUMAN; HYPOCALCIURIA; HYPOKALEMIA; HYPOMAGNESEMIA; MALE; BARTTER SYNDROME; CONSANGUINITY; DIFFERENTIAL DIAGNOSIS; GENETICS; MAGNESIUM DEFICIENCY; PEDIGREE; PRESCHOOL CHILD; SYNDROME; URINE;

CALCIUM; MAGNESIUM; POTASSIUM;

ADOLESCENT; BARTTER SYNDROME; CALCIUM; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; HYPOKALEMIA; MAGNESIUM; MAGNESIUM DEFICIENCY; PEDIGREE; POTASSIUM; SYNDROME;

EID: 0031591705     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Gitelman HJ, Graham JB, Welt LG A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 1966;79:221-35.
2. Rodriguez-Soriano J, Vallo A, Garcia-Fuentes M. Hypomagnesaemia of hereditary renal origin. Pediatr Nephrol 1987;1:465-72.
3. Geven WB. Magnesium metabolism in childhood [proefschrift]. Nijmegen: Katholieke Universiteit Nijmegen, 1991.
4. Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC, et al. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 1992;120:38-43.
5. Potassium and magnesium depletion In: McCusick VA. editor. Mendelian inheritance in man. Baltimore: The Johns Hopkins University Press, 1986.
6. Squires RD, Huth EJ. Experimental potassium depletion in normal human subjects. I. Relation of ionic intakes to the renal conservation of potassium. J Clin Invest 1959;38:1134-48.
7. Fiselier T, Monnens L, Munster P van, Jansen M, Peer P, Lijnen P. The renin-angiotensin-aldosterone system in infancy and childhood in basal conditions and after stimulation. Eur J Pediatr 1984;143:18-24.
8. Monnens L, Smulders Y, Lier H van, Boo T de. DDAVP test for assessment of renal concentrating capacity in infants and children Nephron 1981;29:151-4.
9. Jonge N de. Indicaties voor de bepaling van magnesium. Ned Tijdschr Geneeskd 1993;137:287-90.
10. Ghazali S, Barratt TM. Urinary excretion of calcium and magnesium in children. Arch Dis Child 1974;49:97-101.
11. Gamba G, Saltzberg SN, Lombardi M, Miyanoshita A, Lytton J, Hediger MA, et al. Primary structure and functional expression of a cDNA encoding the thiazide-sensitive, electroneutral sodium-chloride cotransporter. Proc Natl Acad Sci USA 1993;90:2749-53.
12. Lemmink HH, Heuvel LPWJ van den, Dijk HA van, Merkx GFM, Smilde TJ, Taschner PEM, et al. Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families. Pediatr Nephrol 1996; 10:403-7.
13. Evans RA, Carter JN, George CR, Walls RS, Newland RC, McDonnell GD, et al The congenital 'magnesium-losing kidney'. Report of two patients. Q J Med 1981;50:39-52.
14. Bettinelli A, Metta MG, Perini A, Basilico E, Santeramo C. Long-term follow-up of a patient with Gitelman's syndrome. Pediatr Nephrol 1993;7:67-8