Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome

Journal of Pediatrics

Volumn 142, Issue 3, 2003, Pages 318-323

  Finer, Gal ^b   Shalev, Hanna ^b   Birk, Ohad S ^b   Galron, Dalia ^b   Jeck, Nikola ^b   Sinai Treiman, Levana ^b   Landau, Daniel ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; POTASSIUM; POTASSIUM CHANNEL; POTASSIUM PUMP; RENIN; ROMK PROTEIN; SODIUM; SODIUM POTASSIUM CHLORIDE COTRANSPORTER; UNCLASSIFIED DRUG;

ARAB; ARTICLE; BARTTER SYNDROME; CLINICAL ARTICLE; DEHYDRATION; FAILURE TO THRIVE; FEMALE; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; HYDRAMNIOS; HYPERALDOSTERONISM; HYPERCALCIURIA; HYPERKALEMIA; HYPERRENINEMIA; HYPOKALEMIC ALKALOSIS; HYPONATREMIA; INFANT; JEW; KIDNEY CALCIFICATION; MALE; METABOLIC ALKALOSIS; POLYURIA; POTASSIUM BLOOD LEVEL; PREMATURITY; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM; SODIUM BLOOD LEVEL; UREMIA; VERY LOW BIRTH WEIGHT;

EID: 0037339228     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2003.100     Document Type: Article

References (35)

1. Sutton RA, Mavichak V, Halabe A, Wilkins GE. Bartter's syndrome: evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome. Miner Electrolyte Metab 1992;18:43-51.
2. Kockerling A, Reinalter SC, Seyberth HW. Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle. J Pediatr 1996;129:519-28.
3. Greger R. Ion transport mechanisms in thick ascending limb of Henle's loop of mammalian nephron. Physiol Rev 1985;65:760-97.
4. Proesmans W. Bartter syndrome and its neonatal variant. Eur J Pediatr 1997;156:669-79.
5. Reinalter S, Devlieger H, Proesmans W. Neonatal Bartter syndrome: spontaneous resolution of all signs and symptoms. Pediatr Nephrol 1998;12:186-8.
6. Seyberth HW, Soergel M. Köckerling A. Hypokalaemic tubular disorders: the hyperprostaglandin E syndrome and Gitelman-Bartter syndrome. In: Davison AM, Cameron JS, Grünfeld JP, et al, eds. Oxford textbook of clinical nephrology. Oxford: Oxford University Press; 1998. p. 1085-94.
7. Peters M, Jeck N, Reinalter S, Leonhardt A, Tonshoff B, Klaus G, et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 2002;112:183-90.
8. Landau D, Shalev H, Ohaly M, Carmi R. Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. Am J Med Genet 1995;59:454-9.
9. International Collaborative Study Group for Bartter-like Syndromes. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Hum Mol Genet 1997;6:17-26.
10. Jeck N, Drest C, Wischmeyer E, Ott H, Weber S, Rudin C, et al. Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome Kidney Int 2001;59:1803-11.
11. Fiselier TJ, Lijnen P, Monnens L, van Munster P, Jansen M, Peer P. Levels of renin, angiotensin I and II, angiotensin-converting enzyme and aldosterone in infancy and childhood. Eur J Pediatr 1983;141:3-7.
12. Joppich R, Scherer B, Weber PC. Renal prostaglandins: relationship to the development of blood pressure and concentrating capacity in pre-term and full term healthy infants. Eur J Pediatr 1979;132:253-9.
13. Abramson O, Zmora E, Mazor M, Shinwell ES. Pseudohypoaldosteronism in a preterm infant: intrauterine presentation as hydramnios. J Pediatr 1992;120:129-32.
14. Shalev H, Landau D. The neonatal variant of Bartter Syndrome and deafness: preservation of renal function [abstract]. Pediatr Nephrol 2002;9:C89.
15. Konrad M, Leonhardt A, Hensen P, Seyberth HW, Kockerling A. Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes. Pediatrics 1999;103:678-83.
16. Sargent JD, Stukel TA, Kresel J, Klein RZ. Normal values for random urinary calcium to creatinine ratios in infancy. J Pediatr 1993;123:393-7.
17. Hebert S, Andreoli T. Control of NaCl transport in the thick ascending limb. Am J Physiol 1984;246:745-56.
18. Giebisch G. Renal potassium transport: mechanisms and regulation. Am J Physiol 1998;274:817-33.
19. Frindt G, Palmer LG. Low-conductance K channels in apical membrane of rat cortical collecting tubule. Am J Physiol 1989;256:143-51.
20. Wang W, Schwab A, Giebisch G. Regulation of small-conductance K channel in apical membrane of rat cortical collecting tubule. Proc Natl Acad Sci U S A 1986;83:2767-70.
21. Palmer LG, Choe H, Frindt G. Is the secretory K channel in the rat CCT ROMK? Am J Physiol 1997;273:404-10.
22. Birkenhager R, Otto E, Schermann MJ, Vollmer M, Ruf E, Maier-Lutz I, et al. Bartter syndrome with sensorineural deafness and kidney failure is caused by mutation of a new gene expressed in kidney and during inner ear development. Nature Genet 2001;29:310-4.
23. Dillon MJ, Leonard JV, Buckler JM, Ogilvie D, Lillystone D, Honour JW, Shackleton CH. Pseudohypoaldosteronism. Arch Dis Child 1980;55:427-34.
24. Bistrizer T, Lahat E, Eshel G, Barr J, Hanukoglu A, Aaldjem M. Severe pseudohypoaldosteronism in a pair of twins not associated with hydramnios. Pediatr Nephrol 1996;10:438-41.
25. Shalev H, Ohali M, Abramson O. Nephrocalcinosis in pseudohypoaldosteronism and the effect of indomethacin therapy. J Pediatr 1994;125:246-8.
26. Gruskay J, Costarino AT, Polin RA, Baumgart S. Nonoliguric hyperkalemia in the premature infant weighing less than 1000 grams. J Pediatr 1988;113:381-6.
27. Sato K, Kondo T, Iwao H, Honda S, Ueda K. Internal potassium shift in premature infants: cause of nonoliguric hyperkalemia. J Pediatr 1995;126:109-13.
28. Stefano JL, Norman ME, Morales MC, Goplerud JM, Mishra OP, Delivoria PM. Decreased erythrocyte Na+,K+-ATPase activity associated with cellular potassium loss in extremely low birth weight infants with nonoliguric hyperkalemia. J Pediatr 1993;122:276-84.
29. Singh BS, Sadiq HF, Noguchi A, Keenan WJ. Efficacy of albuterol inhalation in treatment of hyperkalemia in premature infants. J Pediatr 2002;141:16-20.
30. Yano H, Philipson L, Kugler J, Tokuyama Y, Davis E, Beau MI, et al. Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA. Mol Pharmacol 1994;45:854-60.
31. Shuck M, Bock J, Benjamin C, Tsai TD, Lee K, Slightom J, et al. Cloning and characterization of multiple forms of the human kidney ROMK potassium channel. J Biol Chem 1994;269:24261-70.
32. Boim MA, Ho K, Shuck ME, Bienkowski MJ, Block JH, Slightom JL, et al. ROMK inwardly rectifying ATP-sensitive K+ channel, II: cloning and distribution of alternative forms. Am J Physiol 1995;268:1132-40.
33. Satlin LM. Postnatal maturation of potassium transport. Am J Physiol 1994;266:57-65.
34. Satlin LM, Palmer LG. Apical K+ conductance in maturing rabbit principal cell. Am J Physiol 1997;272:397-404.
35. Benchimol C, Zavilowitz B, Satlin LM. Developmental expression of ROMK mRNA in rabbit cortical collecting duct. Pediatr Res 2000;47:46-52.