Antenatal Bartter's syndrome: Why is this not a lethal condition?

QJM: An International Journal of Medicine

Volumn 101, Issue 12, 2008, Pages 927-942

  Böckenhauer, Detlef ^a   Cruwys, M ^b   Kleta, R ^c   Halperin, L F ^d   Wildgoose, P ^d   Souma, T ^d   Nukiwa, N ^d   Cheema Dhadli, S ^d   Chong, C K ^d   Kamel, K S ^d   Davids, M R ^e   Halperin, M L ^d  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b HILLINGDON HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d ST MICHAEL'S HOSPITAL   (Canada)

^e STELLENBOSCH UNIVERSITY   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

INDOMETACIN;

ARTICLE; BARTTER SYNDROME; CASE REPORT; CONSULTATION; DIAGNOSTIC TEST; DISEASE SEVERITY; DRUG DOSE TITRATION; DRUG EFFICACY; GENE SEQUENCE; HENLE LOOP; HOMOZYGOSITY; HUMAN; HYDRAMNIOS; MALE; NATRIURESIS; NEPHROGENIC DIABETES INSIPIDUS; NEPHROTOXICITY; PRESCHOOL CHILD; PRIORITY JOURNAL; SALT LOSING NEPHRITIS; SURVIVAL;

EID: 57049184564     PISSN: 14602725     EISSN: 14602393     Source Type: Journal    
DOI: 10.1093/qjmed/hcn119     Document Type: Article

References (31)

1. Reeves WB, Andreoli TA. Sodium and chloride transport in the loop of Henle, distal convoluted tubule and the collecting duct. In: Alpern R, Hebert SC, eds. The Kidney. New York, Raven Press, 2007:849-87.
2. Halperin ML, Kamel KS, Oh MS. Mechanisms to concentrate the urine: An opinion. Curr Opin Nephrol Hypertens 2008; 17:416-22.
3. Bartter FC, Pronove P, Gill JR Jr, Maccardle RC. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 1962; 33:811-28.
4. Kleta R, Bockenhauer D. Bartter syndromes and other salt-losing tubulopathies. Nephron Physiol 2006; 104:73-80.
5. Satlin LM, Carattino MD, Liu W, Kleyman TR. Regulation of cation transport in the distal nephron by mechanical forces. Am J Physiol Renal Physiol 2006; 291:F923-31.
6. Kamel KS, Lin SH, Halperin ML. Clinical disorders of Hyperkalemia. In: Alpern R, Hebert SC, eds. The Kidney. New York, Raven Press, 2007:1387-406.
7. Gottschalk CW. Fifth Bowditch lecture. Micropuncture studies of tubular function in the mammalian kidney. Physiologist 1961; 4:35-55.
8. Cheema-Dhadli S, Lin SH, Keong-Chong C, Kamel KS, Halperin ML. Requirements for a high rate of potassium excretion in rats consuming a low electrolyte diet. J Physiol 2006; 572(Pt 2):493-501.
9. Watten RH, Morgan FM, Yachai Na S, Vanikiati B, Phillips RA. Water and electrolyte studies in cholera. J Clin Invest 1959; 38 1879-89.
10. McCance RA. Medical problems in mineral metabolism. III. Experimental human salt deficiency. Lancet 1936; 230:823-30.
11. Zalunardo N, Lemaire M, Davids MR, Halperin ML. Acidosis in a patient with cholera: A need to redefine concepts. Q J Med 2004; 97 681-96.
12. Adelman RD, Solhaug MJ. Fluid and Electrolyte Treatment of Specific Disorders. In: Behrman RE, Kliegman R, Nelson WE, eds. Nelson's Textbook of Pediatrics. Philadelphia, PA, Saunders, 1996: 213-22.
13. Zhai XY, Fenton RA, Andreasen A, Thomsen JS, Christensen EI. Aquaporin-1 is not expressed in descending thin limbs of short-loop nephrons. J Am Soc Nephrol 2007; 18:2937-44.
14. Wang W, Michel CC. Modeling exchange of plasma proteins between microcirculation and interstitium of the renal medulla. Am J Physiol Renal Physiol 2000; 279:F334-44.
15. Schnermann J, Homer W. Smith Award lecture. The juxtaglomerular apparatus: From anatomical peculiarity to physiological relevance. J Am Soc Nephrol 2003; 14:1681-94.
16. Peti-Peterdi J, Komlosi P, Fuson AL, Guan Y, Schneider A, Qi Z, et al Luminal NaCl delivery regulates basolateral PGE2 release from macula densa cells. J Clin Invest 2003; 112:76-82.
17. Nusing RM, Seyberth HW. The role of cyclooxygenases and prostanoid receptorsin furosemide-like salt losing tubulopathy: The hyperprostaglandin E syndrome. Acta Physiol Scand 2004; 181 523-8.
18. Jeck N, Schlingmann KP, Reinalter SC, Komhoff M, Peters M, Waldegger S, et al. Salt handling in the distal nephron: Lessons learned from inherited human disorders. Am J Physiol Regul Integr Comp Physiol 2005; 288:R782-95.
19. Peters M, Jeck N, Reinalter S, Leonhardt A, Tonshoff B, Klaus GG, et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 2002; 112 183-90.
20. Reinalter SC, Grone HJ, Konrad M, Seyberth HW, Klaus G. Evaluation of long-term treatment with indomethacin in hereditary hypokalemic salt-losing tubulopathies. J Pediatr 2001; 139:398-406.
21. McCance RA. Renal function in early life. Physiol Rev 1948; 28 331-48.
22. McCance RA. Renal physiology in infancy. Am J Med 1950; 9 229-41.
23. McCance RA, Young WF. The secretion of urine by newborn infants. J Physiol 1941; 99:265-82.
24. Lankford SP, Chou CL, Terada Y, Wall SM, Wade JB, Knepper MA. Regulation of collecting duct water permeability independent of cAMP-mediated AVP response. Am J Physiol 1991; 261(3 Pt 2):F554-66.
25. Horster MF, Zink H. Functional differentiation of the medullary collecting tubule: Influence of vasopressin. Kidney Int 1982; 22:360-5.
26. Bonilla-Felix M. Development of water transport in the collecting duct. Am J Physiol Renal Physiol 2004; 287:F1093-101.
27. Halperin ML, Bichet DG, Oh MS. Integrative physiology of basal water permeability in the distal nephron: Implications for the syndrome of inappropriate secretion of antidiuretic hormone. Clin Nephrol 2001; 56:339-45.
28. Edelmann CM, Barnett HL, Troupkou V. Renal concentrating mechanisms in newborn infants. Effect of dietary protein and water content, role of urea, and responsiveness to antidiuretic hormone. J Clin Invest 1960; 39:1062-9.
29. Dzau VJ, Packer M, Lilly LS, Swartz SL, Hollenberg NK, Williams GH. Prostaglandins in severe congestive heart failure. Relation to activation of the renin-angiotensin system and hyponatremia. N Engl J Med 1984; 310:347-52.
30. Bichet DG. Nephrogenic diabetes insipidus. Semin Nephrol 1994; 14:349-56.
31. Steinmetz PR, Smith HW. Urea and the renal concentrating operation in man. Am J Med 1963; 35:727-36.