Revisão Revisado por pares

THE GENETICS OF ENURESIS: A REVIEW

2001; Lippincott Williams & Wilkins; Volume: 166; Issue: 6 Linguagem: Inglês

10.1016/s0022-5347(05)65611-x

ISSN

1527-3792

Autores

Alexander von Gontard, HENRITTE SCHAUMBURG, E Hollmann, Hans Eiberg, Søren Rittig,

Tópico(s)

Veterinary Equine Medical Research

Resumo

No AccessJournal of UrologyPEDIATRIC UROLOGY: International Enuresis Research Center Workshop1 Dec 2001THE GENETICS OF ENURESIS: A REVIEW ALEXANDER von GONTARD, HENRITTE SCHAUMBURG, ELKE HOLLMANN, HANS EIBERG, and SØREN RITTIG ALEXANDER von GONTARDALEXANDER von GONTARD More articles by this author , HENRITTE SCHAUMBURGHENRITTE SCHAUMBURG More articles by this author , ELKE HOLLMANNELKE HOLLMANN More articles by this author , HANS EIBERGHANS EIBERG More articles by this author , and SØREN RITTIGSØREN RITTIG More articles by this author View All Author Informationhttps://doi.org/10.1016/S0022-5347(05)65611-XAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: Formal studies of the genetics of enuresis have been performed since the 1930s and molecular genetics since 1995, both highlighting the importance of hereditary factors in the etiology of nocturnal enuresis. We summarize the current state of knowledge with respect to the genetics of nocturnal enuresis and its genotype-phenotype interactions. Materials and Methods: A comprehensive review of the published data available on the genetic basis of enuresis was performed. Results: Genetic factors are the most important in the etiology of nocturnal enuresis but somatic and psychosocial environmental factors have a major modulatory effect. Most commonly, nocturnal enuresis is inherited via an autosomal dominant mode of transmission with high penetrance (90%). However, a third of all cases are sporadic, and the difference between sporadic and familial forms is not known. Four gene loci associated with nocturnal enuresis have been identified but the existence of others is presumed (locus heterogeneity). All likely candidate genes have been excluded so far. There is no specific association among the different loci, type of wetting and other aspects of the phenotype. All subtypes of nocturnal enuresis (primary, secondary, combined day/night wetting) are susceptible to comparable genetic influences. Certain syndromes of day wetting follow their own genetic mechanisms but this association with the genetics of nocturnal enuresis is not known. Conclusions: Nocturnal enuresis is a common, genetic and heterogeneous disorder. The associations between genotype and phenotype are complex and are susceptible to environmental influences. Therefore, exact assessment of the clinical phenotype and identification of intermediary phenotypes or traits are needed. Future research will focus on the identification of genes, gene products and their interaction with environmental factors. References 1 : Primary nocturnal enuresis in children. Background and treatment. Scand J Urol Nephrol, suppl.1994; 156: 1. Google Scholar 2 : Micturition habits and incontinence in 7-year-old Swedish school entrants. Eur J Pediatr1990; 149: 434. Google Scholar 3 : Urinary incontinence in children: suggestions for definitions and terminology. Scand J Urol Nephrol1992; 141: 1. Google Scholar 4 : Standardization and definitions in lower urinary tract dysfunction in children. International Children’s Continence Society. Br J Urol, suppl.1998; 81: 1. Google Scholar 5 : Enuresis. A genetic study. Am J Dis Child1935; 49: 557. Google Scholar 6 : Enuresis—a clinical and genetic study. Act Psychiatr Neurol Scand1957; 32: 1. Google Scholar 7 : Enuresis in children. J Pediatr1961; 58: 806. Google Scholar 8 : The genetics of enuresis. In: Bladder Control and Enuresis. Edited by . London: William Heinemann Medical Books1973. Google Scholar 9 : Nocturnal enuresis: a familial condition. J R Soc Med1984; 77: 529. Google Scholar 10 : Treating bed wetting. BMJ1991; 302: 729. Google Scholar 11 : Enuresis in Childhood—Psychiatric, Somatic and Molecular Genetic Correlations. Cologne: University of Cologne1995. Google Scholar 12 : Clinical enuresis phenotypes in familial nocturnal enuresis. Scand J Urol Nephrol, suppl.1997; 183: 11. Google Scholar 13 : Transmission of primary nocturnal enuresis and attention deficit hyperactivity disorder. Acta Paediatr1999; 88: 1364. Google Scholar 14 : Transmission of primary nocturnal enuresis and attention deficit hyperactivity disorder. Acta Paediatr1999; 88: 1315. Google Scholar 15 : Factors related to the age of attainment of nocturnal bladder control: an 8-year longitudinal study. Pediatrics1986; 78: 884. Google Scholar 16 : Secondary enuresis in a birth cohort of New Zealand children. Paediatr Perinat Epidemiol1990; 4: 53. Google Scholar 17 : Enuresis in seven-year-old children. Acta Paediatr Scand1988; 77: 148. Google Scholar 18 : Nocturnal enuresis in twins. Acta Psychiatr Neurol Scand1960; 35: 73. Google Scholar 19 : Enuresis in twins. Am J Dis Child1971; 121: 222. Google Scholar 20 : Behavioural genetics of early childhood: fears, restlessness, motion sickness and enuresis. Acta Genet Med Gemellol (Roma)1984; 33: 303. Google Scholar 21 : Nocturnal enuresis in a nationwide twin cohort. Sleep1998; 21: 579. Google Scholar 22 : Enuresis among kibbutz children. J Med Assoc Israel1962; 63: 251. Google Scholar 23 : Zur Frage der Vererbung der Enuresis nocturna. Deutsche Zschr P Nervenh1928; 104: 308. Google Scholar 24 : Assignment of dominant inherited nocturnal enuresis (ENUR1) to chromosome 13q. Nat Genet1995; 10: 354. Google Scholar 25 : Erblichkeit und Enuresis nocturna. Sovet Psichonevr1934; 10: 10. Google Scholar 26 : The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q. J Med Genet1997; 34: 360. Google Scholar 27 : Enuresis: associations of genotype and phenotype. Mol Psychiatr1999; 4: S57. Google Scholar 28 : The genetics of nocturnal enuresis: a simple question of complexity. Acta Paediatr1998; 87: 487. Google Scholar 29 : The role of family history in predicting response to desmopressin in nocturnal enuresis. J Urol1993; 150: 444. Link, Google Scholar 30 : Nocturnal enuresis: experience with long-term use of intranasally administered desmopressin. J Pediatr1989; 114: 723. Google Scholar 31 : Micturition habits and bladder capacity in normal children and in patients with desmopressin-resistant enuresis. Scand J Urol Nephrol, suppl.1995; 173: 49. Google Scholar 32 : No relationship between family history of enuresis and response to desmopressin. J Urol2001; 166: 2435. Link, Google Scholar 33 : Response to desmopressin as a function of urine osmolality in the treatment of monosymptomatic nocturnal enuresis: a double-blind prospective study. J Urol1995; 154: 749. Link, Google Scholar 34 : Predictors of response to desmopressin in children and adolescents with monosymptomatic nocturnal enuresis. Scand J Urol Nephrol, suppl.1995; 173: 109. Google Scholar 35 : Exclusion mapping. J Med Genet1987; 24: 539. Google Scholar 36 : Assignment of dominant inherited nocturnal enuresis to chromosome 13q. Evidence of genetic heterogeneity. Human Genome Meeting, 1 Heidelberg1996; . abstract A121. Google Scholar 37 : Nocturnal enuresis is linked to a specific gene. Scand J Urol Nephrol, suppl.1995; 173: 15. Google Scholar 38 : Total genome scan analysis in a single extended family for primary nocturnal enuresis: evidence for a new locus (ENUR3) for primary nocturnal enuresis on chromosome 22q11. Eur Urol1998; 33: 34. Google Scholar 39 : Molecular genetics of nocturnal enuresis: clinical and genetic heterogeneity. Acta Paediatr1998; 87: 571. Google Scholar 40 : Molecular genetics of nocturnal enuresis: linkage to a locus on chromosome 22. Scand J Urol Nephrol, suppl.1999; 202: 76. Google Scholar 41 Schaumburg H.L. Kapilin U. Blaasvaar C. et al. Phenotypical characteristics in hereditary nocturnal enuresis. Unpublished data Google Scholar 42 Eiberg H. Schaumberg H.L. Rittig S. et al. Dominant inheritance for a gene which mainly causes urge incontinence in a large four generation Danish family. Unpublished data Google Scholar 43 Eiberg H., Schaumburg H.L. Rittig S. et al. Dominant inheritance for a gene which mainly causes nocturnal enuresis in two large three generation families from the Faroe islands. Unpublished data Google Scholar 44 : Genetic association studies in behavioural neuroscience. In: Handbook of Molecular-Genetic Techniques for Brain and Behaviour Research. Edited by . New York: Elsevier Science BV, 1131999. Google Scholar 45 : Assignment of GUCY1B2, the gene coding for the beta2 subunit of human guanylyl cyclase to chromosomal band 13q14.3 between markers D13S168 and D13S155. Genomics1999; 55: 126. Google Scholar 46 : The Acquaporin-2 water channel gene is not mutated in families with primary nocturnal enuresis, in which the disease cosegregates with chromosome 12q. Denver, Colorado: Presented at meeting of International Children’s Continence Society1999. Google Scholar 47 : Human TRH-degrading ectoenzyme cDNA cloning, functional expression, genomic structure and chromosomal assignment. Eur J Biochem1999; 265: 415. Google Scholar 48 : Das Gen-Konzept, Phaenogenetik. In: Psychiatrische Genetik. Berlin: Springer Verlag1989: 51. Google Scholar 49 : Why behavioural phenotypes? In: Behavioural Phenotypes. London: Mac Keith Press1995: 1. Google Scholar 50 : The genetic contribution to the phenotype. Hum Genet1995; 95: 127. Google Scholar 51 : Nocturnal enuresis at the molecular level. Scand J Urol Nephrol, suppl1995; 173: 9. Google Scholar 52 : Prepulse inhibition of startle and the neurobiology of primary nocturnal enuresis. Biol Psychiatr1999; 45: 1455. Google Scholar 53 : Is dysco-ordinated voiding in children an hereditary disorder?. Scand J Urol Nephrol, suppl.1995; 173: 31. Google Scholar 54 : Primary nocturnal enuresis: a urodynamic study spanning three generations. Scand J Urol Nephrol1995; 29: 285. Google Scholar 55 : Successful treatment of giggle incontinence with methylphenidate. J Urol1996; 156: 656. Link, Google Scholar 56 : Treatment of enuresis risoria in children by self-administered electric and imaginary shock. Br J Urol1995; 76: 775. Google Scholar From the Department of Child and Adolescent Psychiatry, University of Cologne, Cologne, Germany, and Institute of Experimental and Clinical Research, Skejby University Hospital, Aarhus, and Panum Institute for Genetics and Biochemistry, University of Copenhagen, Copenhagen, Denmark© 2001 by American Urological Association, Inc.FiguresReferencesRelatedDetailsCited byNegoro H, Kanematsu A, Matsuo M, Okamura H, Tabata Y and Ogawa O (2018) Development of Diurnal Micturition Pattern in Mice After WeaningJournal of Urology, VOL. 189, NO. 2, (740-746), Online publication date: 1-Feb-2013.Negoro H, Kanematsu A, Yoshimura K and Ogawa O (2018) Chronobiology of Micturition: Putative Role of the Circadian ClockJournal of Urology, VOL. 190, NO. 3, (843-849), Online publication date: 1-Sep-2013.von Gontard A, Heron J and Joinson C (2018) Family History of Nocturnal Enuresis and Urinary Incontinence: Results From a Large Epidemiological StudyJournal of Urology, VOL. 185, NO. 6, (2303-2307), Online publication date: 1-Jun-2011.HJALMAS K, ARNOLD T, BOWER W, CAIONE P, CHIOZZA L, von GONTARD A, HAN S, HUSMAN D, KAWAUCHI A, LÄCKGREN G, LOTTMANN H, MARK S, RITTIG S, ROBSON L, WALLE J and YEUNG C (2018) NOCTURNAL ENURESIS: AN INTERNATIONAL EVIDENCE BASED MANAGEMENT STRATEGYJournal of Urology, VOL. 171, NO. 6 Part 2, (2545-2561), Online publication date: 1-Jun-2004.Davis I and MacRae Dell K (2018) EDITORIAL: ARE AQUAPORIN WATER CHANNELS THE “HOLY GRAIL” OF PRIMARY NOCTURNAL ENURESIS?Journal of Urology, VOL. 167, NO. 3, (1451-1452), Online publication date: 1-Mar-2002. Volume 166Issue 6December 2001Page: 2438-2443 Advertisement Copyright & Permissions© 2001 by American Urological Association, Inc.Keywordsgeneticsenuresisgenetics, biochemicallinkage (genetics)MetricsAuthor Information ALEXANDER von GONTARD More articles by this author HENRITTE SCHAUMBURG More articles by this author ELKE HOLLMANN More articles by this author HANS EIBERG More articles by this author SØREN RITTIG More articles by this author Expand All Advertisement PDF downloadLoading ...

Referência(s)
Altmetric
PlumX