Bladder function impairment in aquaporin-2 defective nephrogenic diabetes insipidus

Nephrology Dialysis Transplantation

Volumn 19, Issue 3, 2004, Pages 608-613

  Shalev, Hanna ^a   Romanovsky, Igor ^a   Knoers, Nine V ^b   Lupa, Salomon ^c   Landau, Daniel ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Alyn Orthopaedic Hospital and Rehabilitation Centre for Physically Handicapped Children Israel   (Israel)

Author keywords

Bladder dysfunction; Hydroureteronephrosis

Indexed keywords

AQUAPORIN 2;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLADDER DYSFUNCTION; BLADDER NECK STENOSIS; CASE STUDY; CHILD; CLINICAL ARTICLE; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; HYDROURETER; KIDNEY COLLECTING TUBULE; KIDNEY CONCENTRATING CAPACITY; KIDNEY FAILURE; MALE; NEPHROGENIC DIABETES INSIPIDUS; NEUROGENIC BLADDER; NOCTURNAL ENURESIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; URINE INCONTINENCE; URINE OSMOLALITY; URODYNAMICS;

ADOLESCENT; ADULT; AQUAPORIN 2; AQUAPORINS; ARABS; CHILD; CHILD, PRESCHOOL; DIABETES INSIPIDUS, NEPHROGENIC; FEMALE; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; RETROSPECTIVE STUDIES; URINARY BLADDER;

EID: 1342263707     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/gfg574     Document Type: Article

References (26)

1. Bichet DG, Arthus MF, Lonergan M et al. X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. J Clin Invest 1993; 92: 1262-1268
2. Van Lieburg AF, Verdijk MAJ, Knoers NVAM et al. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutation in the aquaporin 2 water channel gene. Am J Hum Genet 1994; 55: 648-652
3. Mulders SM, Bichet DG, Rijss JP et al. An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. J Clin Invest 1998; 102: 57-66
4. Sasaki S, Fushimi K, Saito H et al. Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct. J Clin Invest 1994; 93: 1250-1256
5. Tank ES, Alexander SR, Craven RM. Polyuric megalocystis. J Urol 1980; 124: 692-694
6. Streitz JM, Jr, Sreitz JM. Polyuric urinary tract dilatation with renal damage. J Urol 1988; 139: 784-785
7. Waring AJ, Kajdi L, Tappan V. A congenital defect of water metabolism. Am J Dis Child 1945; 126: 398-401
8. Kirchlechner V, Koller DY, Seidl R, Waldhauser F. Treatment of nephrogenic diabetes insipidus with hydrochlorothiazide and amiloride. Arch Dis Child 1999; 80: 548-552
9. Hochberg Z, Even L, Danon A. Amelioration of polyuria in nephrogenic diabetes insipidus due to aquaporin-2 deficiency. Clin Endocrinol 1998; 49: 39-44
10. Van Lieburg AF, Knoers NVAM, Monnens LAH. Clinical presentation and follow up of 30 patients with congenital nephrogenic diabetes insipidus. J Am Soc Nephrol 1999; 10: 1958-1964
11. Hricak H, Cruz C, Romanski R et al. Renal parenchymal disease: sonographic histologic correlation. Radiology 1982; 144: 141-147
12. Monnens L, Smulders Y, van Lier H, Boo T. DDAVP test for assessment of renal concentrating capacity in infants and children. Nephron 1981; 29: 151-154
13. Norgaard JP, van Gool JD, Hjalmas K, Djurhuus JC, Hellstrom AL. Standardization and definitions in lower urinary tract dysfunction in children. Br J Urol 1998; 81 [Suppl 3]: 1-16
14. Butler RJ. Establishment of working definitions in nocturnal enuresis. Arch Dis Child 1991; 66: 267-271
15. Podesta ML, Ruarte A, Herrera M, Medel R, Castera R. Bladder functional outcome after delayed vesicostomy closure and antireflux surgery in young infants with 'primary' vesico-ureteric reflux. BJU Int 2001; 87: 473-479
16. Marr N, Bichet DG, Hoefs S et al. Cell-biologic and functional analyses of five new aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus. J Am Soc Nephrol 2002; 13: 2267-2277
17. Ten Bensel RW, Peters ER. Progressive hydronephrosis, hydroureter and dilatation of the bladder in siblings with congenital nephrogenic diabetes insipidus. J Pediatr 1970; 77: 439-443
18. Nissenkorn I, Mukamel E, Shmueli D, Servadio C. Post-obstructive diuresis in nephrogenic diabetes insipidus associated with bladder neck obstruction. J Urol 1979; 121: 251-253
19. Uribarri J, Kaskas M. Hereditary nephrogenic diabetes insipidus and bilateral nonobstructive hydronephrosis. Nephron 1993; 65: 346-349
20. Zender HO, Ruedin P, Moser F, Bolle JF, Leski M. Traumatic rupture of the urinary tract in a patient presenting nephrogenic diabetes insipidus associated with hydronephrosis and chronic renal failure: case report and review of the literature. Clin Nephrol 1992; 38: 196-202
21. Canfield MC, Tamarappoo BK, Moses AM, Verkman AS, Holtzman EJ. Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response. Hum Mol Genet 1997; 6: 1865-1871
22. Amlal H, Chen Q, Habo K, Wang Z, Soleimani M. Fasting downregulates renal water channel AQP2 and causes polyuria. Am J Physiol (Renal Physiol) 2001; 280: F513-F523
23. Amlal H, Krane CM, Chen Q, Soleimani M. Early polyuria and urinary concentrating defect in potassium deprivation. Am J Physiol (Renal Physiol) 2000; 279: F655-F663
24. Kwon TH, Laursen UH, Marples D et al. Altered expression of renal AQPs and Na(+) transporters in rats with lithium-induced NDI. Am J Physiol (Renal Physiol) 2000; 279: F552-F564
25. Geller DS, Rodriguez-Soriano J, Boado AV et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nature Genet 1999; 19: 279-281
26. Chang SS, Grunder S, Hanukoglu A et al. Mutations in alpha subunits of the epithelial sodium channel cause salt wasting with hyperkalemic acidosis, pseudohypoaldosteronism type I. Nat Genet 1996; 12: 248-253