Type IV Bartter syndrome: Report of two new cases

Pediatric Nephrology

Volumn 21, Issue 6, 2006, Pages 766-770

  Zaffanello, Marco ^a,b   Taranta, Anna ^a   Palma, Alessia ^a   Bettinelli, Alberto ^c   Marseglia, Gian Luigi ^d   Emma, Francesco ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c A MANZONI HOSPITAL   (Italy)

^d UNIVERSITY OF PAVIA   (Italy)

Author keywords

Bartter syndrome; Captopril; Furosemide; Hydrochlorothiazide; Indomethacin; Nimesulide; Sensorineural deafness

Indexed keywords

ALDOSTERONE; CALCIUM; CAPTOPRIL; CREATININE; FUROSEMIDE; GENE PRODUCT; HYDROCHLOROTHIAZIDE; INDOMETACIN; INFUSION FLUID; MAGNESIUM; MESSENGER RNA; NIMESULIDE; POTASSIUM; POTASSIUM CHLORIDE; PROSTAGLANDIN INHIBITOR; PROTEIN BSND; RECOMBINANT GROWTH HORMONE; SODIUM; SODIUM CHLORIDE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BARTTER SYNDROME; BODY GROWTH; CALCIUM URINE LEVEL; CASE REPORT; CHRONIC KIDNEY FAILURE; CODON; CREATININE URINE LEVEL; DISEASE COURSE; DISEASE SEVERITY; FAILURE TO THRIVE; HOMOZYGOSITY; HUMAN; HYDRAMNIOS; HYPERRENINEMIA; HYPOKALEMIA; HYPOKALEMIC ALKALOSIS; INTRON; KIDNEY CALCIFICATION; METABOLIC ALKALOSIS; MUSCLE HYPOTONIA; POLYURIA; PRIORITY JOURNAL; TREATMENT FAILURE; WEIGHT GAIN;

ANGIOTENSIN-CONVERTING ENZYME INHIBITORS; ANTI-INFLAMMATORY AGENTS, NON-STEROIDAL; BARTTER SYNDROME; CAPTOPRIL; COMBINED MODALITY THERAPY; DIURETICS; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; INDOMETHACIN; INFANT, NEWBORN; MEMBRANE PROTEINS; MUTATION;

EID: 33646695396     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-006-0090-x     Document Type: Article

References (15)

1. Konrad M, Weber S (2003) Recent advances in molecular genetics of hereditary magnesium-losing disorders. J Am Soc Nephrol 14:249-260
2. Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29:310-314
3. Brennan TM, Landau D, Shalev H, Lamb F, Schutte BC, Walder RY, Mark AL, Carmi R, Sheffield VC (1998) Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. Am J Hum Genet 62:355-361
4. Vollmer M, Jeck N, Lemmink HH, Vargas R, Feldmann D, Konrad M, Beekmann F, van Den Heuvel LP, Deschenes G, Guay-Woodford LM, Antignac C, Seyberth HW, Hildebrandt F, Knoers NV (2000) Antenatal Bartter syndrome with sensorineural deafness: Refinement of the locus on chromosome 1p31. Nephrol Dial Transplant 15:970-974
5. + secretion. Nature 414:558-561
6. Landau D, Shalev H, Ohaly M, Carmi R (1995) Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder. Am J Med Genet 59:454-459
7. - by the thiazide-inhibitable transporter of the distal convoluted tubule in Gitelman's syndrome. Am J Nephrol 17:103-111
8. Nusing RM, Reinalter SC, Peters M, Komhoff M, Seyberth HW (2001) Pathogenetic role of cycloxygenase-2 in hyperprostaglandin E sindrome/ antenatal nBartter sindrome: Therapeutic use of the cycloxygenase-2 inhibitor nimesulide. Clin Pharmacol Ther 70:384-390
9. Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S (2004) Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med 25:1314-1319
10. Shalev H, Ohali M, Kachko L, Landau D (2003) The neonatal variant of Bartter syndrome and deafness: Preservation of renal function. Pediatrics 112:628-633
11. Mendoza SA (1988) Nephrotoxic drugs. Pediatr Nephrol 2:466-476
12. Reinalter SC, Grone HJ, Konrad M, Seyberth HW, Klaus G (2001) Evaluation of long-term treatment with indomethacin in hereditary hypokalemic salt-losing tubulopathies. J Pediatr 139:398-406
13. Harris RC, Breyer MD (2001) Physiological regulation of cyclooxygenase-2 in the kidney. Am J Physiol Renal Physiol 281:F1-F11
14. Waldegger S, Jeck N, Barth P, Peters M, Vitzthum H, Wolf K, Kurtz A, Konrad M, Seyberth HW (2002) Barttin increases surface expression and changes current properties of ClC-K channels. Eur J Physiol 444:411-418
15. Reinalter SC, Jeck N, Peters M, Seyberth HW (2004) Pharmacotyping of hypokalaemic salt-losing tubular disorders. Acta Physiol Scand 181:513-521