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Nocturnal enuresis(ENUR1)

MedGen UID:
124355
Concept ID:
C0270327
Finding; Mental or Behavioral Dysfunction
Synonyms: BEDWETTING; Enuresis nocturna
SNOMED CT: Bed wetting (8009008); Bedwetting (8009008); Nocturnal incontinence of urine (8009008); Wets bed (8009008); Nocturnal enuresis (8009008)
 
HPO: HP:0010677
Monarch Initiative: MONDO:0000022
OMIM®: 600631

Definition

Nocturnal enuresis, or nightly bedwetting in children more than 7 years of age, affects about 10% of 7-year-old children, with a wide range of frequencies between populations. The affliction is often linked to major social maladjustments and occupies considerable time in general medical practice. From the age of 7, there is a spontaneous cure rate of 15% per year, such that few remain affected after the age of 16 years. There are 2 types of nocturnal enuresis: type I, the primary form (PNE), with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder, and type II, or secondary type, where the child has been dry for at least 6 months but enuresis has recurred (summary by Eiberg et al., 1995). Genetic Heterogeneity of Nocturnal Enuresis ENUR1 has been mapped to chromosome 13q, and ENUR2 has been mapped to chromosome 12q. [from OMIM]

Clinical features

From HPO
Nocturnal enuresis
MedGen UID:
124355
Concept ID:
C0270327
Mental or Behavioral Dysfunction
Nocturnal enuresis, or nightly bedwetting in children more than 7 years of age, affects about 10% of 7-year-old children, with a wide range of frequencies between populations. The affliction is often linked to major social maladjustments and occupies considerable time in general medical practice. From the age of 7, there is a spontaneous cure rate of 15% per year, such that few remain affected after the age of 16 years. There are 2 types of nocturnal enuresis: type I, the primary form (PNE), with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder, and type II, or secondary type, where the child has been dry for at least 6 months but enuresis has recurred (summary by Eiberg et al., 1995). Genetic Heterogeneity of Nocturnal Enuresis ENUR1 has been mapped to chromosome 13q, and ENUR2 has been mapped to chromosome 12q.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNocturnal enuresis

Conditions with this feature

Nocturnal enuresis
MedGen UID:
124355
Concept ID:
C0270327
Mental or Behavioral Dysfunction
Nocturnal enuresis, or nightly bedwetting in children more than 7 years of age, affects about 10% of 7-year-old children, with a wide range of frequencies between populations. The affliction is often linked to major social maladjustments and occupies considerable time in general medical practice. From the age of 7, there is a spontaneous cure rate of 15% per year, such that few remain affected after the age of 16 years. There are 2 types of nocturnal enuresis: type I, the primary form (PNE), with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder, and type II, or secondary type, where the child has been dry for at least 6 months but enuresis has recurred (summary by Eiberg et al., 1995). Genetic Heterogeneity of Nocturnal Enuresis ENUR1 has been mapped to chromosome 13q, and ENUR2 has been mapped to chromosome 12q.
Nocturnal enuresis, 2
MedGen UID:
331473
Concept ID:
C1833268
Disease or Syndrome
Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred.
Familial renal glucosuria
MedGen UID:
757652
Concept ID:
C3245525
Disease or Syndrome
Patients with familial renal glucosuria have decreased renal tubular resorption of glucose form the urine in the absence of hyperglycemia and any other signs of tubular dysfunction. Glucosuria in these patients can range from less than 1 to over 150 g/1.73 m(2) per day (Santer and Calado, 2010).
Osteogenesis imperfecta type 13
MedGen UID:
766801
Concept ID:
C3553887
Disease or Syndrome
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
MedGen UID:
862975
Concept ID:
C4014538
Disease or Syndrome
ADNP-related disorder is characterized by hypotonia, severe speech and motor delay, mild-to-severe intellectual disability, and characteristic facial features (prominent forehead, high anterior hairline, wide and depressed nasal bridge, and short nose with full, upturned nasal tip) based on a cohort of 78 individuals. Features of autism spectrum disorder are common (stereotypic behavior, impaired social interaction). Other common findings include additional behavioral problems, sleep disturbance, brain abnormalities, seizures, feeding issues, gastrointestinal problems, visual dysfunction (hypermetropia, strabismus, cortical visual impairment), musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies, and hearing loss.
Myofibrillar myopathy 7
MedGen UID:
934678
Concept ID:
C4310711
Disease or Syndrome
Myofibrillar myopathy-7 (MFM7) is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness that primarily affects the lower limbs and is associated with joint contractures (summary by Straussberg et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).
Marbach-Schaaf neurodevelopmental syndrome
MedGen UID:
1794260
Concept ID:
C5562050
Disease or Syndrome
Marbach-Schaaf neurodevelopmental syndrom (MASNS) is characterized by global developmental delay with speech delay and behavioral abnormalities, including autism spectrum disorder and ADHD. Affected individuals also show movement disorders, such as dyspraxia and apraxia. More variable features include high pain tolerance, sleep disturbances, and variable nonspecific dysmorphic features (summary by Marbach et al., 2021).
Intellectual developmental disorder, X-linked 112
MedGen UID:
1840225
Concept ID:
C5829589
Disease or Syndrome
X-linked intellectual disorder-112 (XLID112) is a neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Affected females have been reported, which appears to be related to skewed X-inactivation (summary by Hiatt et al., 2023).

Professional guidelines

PubMed

Nevéus T, Fonseca E, Franco I, Kawauchi A, Kovacevic L, Nieuwhof-Leppink A, Raes A, Tekgül S, Yang SS, Rittig S
J Pediatr Urol 2020 Feb;16(1):10-19. Epub 2020 Jan 30 doi: 10.1016/j.jpurol.2019.12.020. PMID: 32278657
Chan IHY, Wong KKY
Hong Kong Med J 2019 Aug;25(4):305-11. Epub 2019 Aug 5 doi: 10.12809/hkmj197916. PMID: 31395789
Haid B, Tekgül S
Eur Urol Focus 2017 Apr;3(2-3):198-206. Epub 2017 Sep 6 doi: 10.1016/j.euf.2017.08.010. PMID: 28888814

Recent clinical studies

Etiology

Katz EG, MacLachlan LS
Curr Urol Rep 2020 Jun 6;21(8):31. doi: 10.1007/s11934-020-00983-2. PMID: 32506170
Nevéus T, Fonseca E, Franco I, Kawauchi A, Kovacevic L, Nieuwhof-Leppink A, Raes A, Tekgül S, Yang SS, Rittig S
J Pediatr Urol 2020 Feb;16(1):10-19. Epub 2020 Jan 30 doi: 10.1016/j.jpurol.2019.12.020. PMID: 32278657
Zivkovic V, Lazovic M, Vlajkovic M, Slavkovic A, Dimitrijevic L, Stankovic I, Vacic N
Eur J Phys Rehabil Med 2012 Sep;48(3):413-21. Epub 2012 Jun 5 PMID: 22669134
Kiddoo D
BMJ Clin Evid 2011 Jan 31;2011 PMID: 21477399Free PMC Article
Thiedke CC
Am Fam Physician 2003 Apr 1;67(7):1499-506. PMID: 12722850

Diagnosis

Nevéus T, Fonseca E, Franco I, Kawauchi A, Kovacevic L, Nieuwhof-Leppink A, Raes A, Tekgül S, Yang SS, Rittig S
J Pediatr Urol 2020 Feb;16(1):10-19. Epub 2020 Jan 30 doi: 10.1016/j.jpurol.2019.12.020. PMID: 32278657
Chan IHY, Wong KKY
Hong Kong Med J 2019 Aug;25(4):305-11. Epub 2019 Aug 5 doi: 10.12809/hkmj197916. PMID: 31395789
Walker RA
Prim Care 2019 Jun;46(2):243-248. doi: 10.1016/j.pop.2019.02.005. PMID: 31030825
Haid B, Tekgül S
Eur Urol Focus 2017 Apr;3(2-3):198-206. Epub 2017 Sep 6 doi: 10.1016/j.euf.2017.08.010. PMID: 28888814
Kiddoo D
BMJ Clin Evid 2011 Jan 31;2011 PMID: 21477399Free PMC Article

Therapy

Tsuji S, Kaneko K
Pediatr Int 2023 Jan-Dec;65(1):e15573. doi: 10.1111/ped.15573. PMID: 37428825
Chan IHY, Wong KKY
Hong Kong Med J 2019 Aug;25(4):305-11. Epub 2019 Aug 5 doi: 10.12809/hkmj197916. PMID: 31395789
Walker RA
Prim Care 2019 Jun;46(2):243-248. doi: 10.1016/j.pop.2019.02.005. PMID: 31030825
Zivkovic V, Lazovic M, Vlajkovic M, Slavkovic A, Dimitrijevic L, Stankovic I, Vacic N
Eur J Phys Rehabil Med 2012 Sep;48(3):413-21. Epub 2012 Jun 5 PMID: 22669134
Kiddoo D
BMJ Clin Evid 2011 Jan 31;2011 PMID: 21477399Free PMC Article

Prognosis

Tan HL, Alonso Alvarez ML, Tsaoussoglou M, Weber S, Kaditis AG
Pediatr Pulmonol 2017 Mar;52(3):399-412. Epub 2016 Dec 28 doi: 10.1002/ppul.23658. PMID: 28029756
Zivkovic V, Lazovic M, Vlajkovic M, Slavkovic A, Dimitrijevic L, Stankovic I, Vacic N
Eur J Phys Rehabil Med 2012 Sep;48(3):413-21. Epub 2012 Jun 5 PMID: 22669134
Nevéus T
Curr Opin Pediatr 2009 Apr;21(2):199-202. doi: 10.1097/MOP.0b013e3283229b12. PMID: 19307899
Butler RJ, Gasson SL
Scand J Urol Nephrol 2005;39(5):349-57. doi: 10.1080/00365590500220321. PMID: 16257835
Robson WL, Leung AK
Clin Pediatr (Phila) 2000 Jul;39(7):379-85. doi: 10.1177/000992280003900701. PMID: 10914301

Clinical prediction guides

Fernandes AER, Roveda JRC, Fernandes CR, Silva DF, de Oliveira Guimarães IC, Lima EM, de Carvalho Mrad FC, de Almeida Vasconcelos MM
Pediatr Nephrol 2023 May;38(5):1427-1438. Epub 2022 Nov 24 doi: 10.1007/s00467-022-05818-5. PMID: 36427087
Liu J, Zhang X, Zhao Y, Wang Y
PLoS One 2020;15(2):e0228533. Epub 2020 Feb 13 doi: 10.1371/journal.pone.0228533. PMID: 32053609Free PMC Article
Zivkovic V, Lazovic M, Vlajkovic M, Slavkovic A, Dimitrijevic L, Stankovic I, Vacic N
Eur J Phys Rehabil Med 2012 Sep;48(3):413-21. Epub 2012 Jun 5 PMID: 22669134
Kiddoo D
BMJ Clin Evid 2011 Jan 31;2011 PMID: 21477399Free PMC Article
Kiddoo D
BMJ Clin Evid 2007 Oct 1;2007 PMID: 19450363Free PMC Article

Recent systematic reviews

Liu J, Zhang X, Zhao Y, Wang Y
PLoS One 2020;15(2):e0228533. Epub 2020 Feb 13 doi: 10.1371/journal.pone.0228533. PMID: 32053609Free PMC Article
Driehuis F, Hoogeboom TJ, Nijhuis-van der Sanden MWG, de Bie RA, Staal JB
PLoS One 2019;14(6):e0218940. Epub 2019 Jun 25 doi: 10.1371/journal.pone.0218940. PMID: 31237917Free PMC Article
Parnell Prevost C, Gleberzon B, Carleo B, Anderson K, Cark M, Pohlman KA
BMC Complement Altern Med 2019 Mar 13;19(1):60. doi: 10.1186/s12906-019-2447-2. PMID: 30866915Free PMC Article
Kiddoo D
BMJ Clin Evid 2011 Jan 31;2011 PMID: 21477399Free PMC Article
Kiddoo D
BMJ Clin Evid 2007 Oct 1;2007 PMID: 19450363Free PMC Article

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