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Enuresis

MedGen UID:
8649
Concept ID:
C0014394
Disease or Syndrome
Synonym: enuresis
 
HPO: HP:0000805
Monarch Initiative: MONDO:0024290

Definition

Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. [from HPO]

Conditions with this feature

Williams syndrome
MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Williams syndrome (WS) is characterized by developmental delay, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, cardiovascular disease (supravalvar aortic stenosis, peripheral pulmonary stenosis, hypertension), connective tissue abnormalities, growth deficiency, endocrine abnormalities (early puberty, hypercalcemia, hypercalciuria, hypothyroidism), and distinctive facies. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones. Feeding difficulties often lead to poor weight gain in infancy.
Familial hypokalemia-hypomagnesemia
MedGen UID:
75681
Concept ID:
C0268450
Disease or Syndrome
Gitelman syndrome (GTLMNS) is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (607364). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.
Ochoa syndrome
MedGen UID:
98015
Concept ID:
C0403555
Disease or Syndrome
Urofacial syndrome (UFS; also known as Ochoa syndrome) is characterized by prenatal or childhood onset of urinary bladder voiding dysfunction, abnormal facial movement with expression (resulting from abnormal co-contraction of the corners of the mouth and eyes), and often bowel dysfunction (constipation and/or encopresis). Bladder voiding dysfunction can present before birth as megacystis. In infancy and later childhood, UFS can present with a poor urinary stream and dribbling incontinence; incomplete bladder emptying can lead to urinary infection with progressive kidney failure. Investigations after birth can show abnormal bladder contractility and vesicoureteral reflux of urine into the ureter and renal pelvis. Nocturnal lagophthalmos (incomplete closing of the eyes during sleep) has also been documented.
Senior-loken syndrome 3
MedGen UID:
335569
Concept ID:
C1846980
Disease or Syndrome
Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively.\n\nSenior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.\n\nLeber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Løken syndrome develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.
Nephronophthisis 3
MedGen UID:
346809
Concept ID:
C1858392
Disease or Syndrome
Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis.\n\nAbout 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus).\n\nNephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent).\n\nNephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.
Spinocerebellar ataxia type 29
MedGen UID:
350085
Concept ID:
C1861732
Disease or Syndrome
Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
EAST syndrome
MedGen UID:
411243
Concept ID:
C2748572
Disease or Syndrome
Syndrome with characteristics of seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. It has been described in five patients from four families. The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene, encoding a potassium channel expressed in the brain, spinal cord, inner ear and kidneys. Transmission is autosomal recessive.
Amelogenesis imperfecta type 1G
MedGen UID:
419162
Concept ID:
C2931783
Disease or Syndrome
Amelogenesis imperfecta and gingival fibromatosis syndrome is an autosomal recessive condition characterized by mild gingival fibromatosis and dental anomalies, including hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies, and unerupted teeth (Martelli-Junior et al., 2008).
Intellectual disability, X-linked 90
MedGen UID:
477074
Concept ID:
C3275443
Mental or Behavioral Dysfunction
Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene.
Urofacial syndrome 2
MedGen UID:
767434
Concept ID:
C3554520
Disease or Syndrome
Urofacial syndrome (UFS; also known as Ochoa syndrome) is characterized by prenatal or childhood onset of urinary bladder voiding dysfunction, abnormal facial movement with expression (resulting from abnormal co-contraction of the corners of the mouth and eyes), and often bowel dysfunction (constipation and/or encopresis). Bladder voiding dysfunction can present before birth as megacystis. In infancy and later childhood, UFS can present with a poor urinary stream and dribbling incontinence; incomplete bladder emptying can lead to urinary infection with progressive kidney failure. Investigations after birth can show abnormal bladder contractility and vesicoureteral reflux of urine into the ureter and renal pelvis. Nocturnal lagophthalmos (incomplete closing of the eyes during sleep) has also been documented.
Intellectual disability-severe speech delay-mild dysmorphism syndrome
MedGen UID:
862201
Concept ID:
C4013764
Mental or Behavioral Dysfunction
FOXP1 syndrome is characterized by delays in early motor and language milestones, mild-to-severe intellectual deficits, speech and language impairment in all individuals regardless of level of cognitive abilities, and behavior abnormalities (including autism spectrum disorder or autistic features, attention-deficit/hyperactivity disorder, anxiety, repetitive behaviors, sleep disturbances, and sensory symptoms). Other common findings are oromotor dysfunction (contributing to speech and feeding difficulties), refractive errors, strabismus, cardiac abnormalities, renal abnormalities, cryptorchidism, hypertonia, hearing loss, and epilepsy. To date, more than 200 individuals have been identified with FOXP1 syndrome.
Tenorio syndrome
MedGen UID:
864147
Concept ID:
C4015710
Disease or Syndrome
Tenorio syndrome (TNORS) is characterized by overgrowth, macrocephaly, and impaired intellectual development. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (270150) (summary by Tenorio et al., 2014).
Blepharophimosis-impaired intellectual development syndrome
MedGen UID:
1779966
Concept ID:
C5443984
Disease or Syndrome
Blepharophimosis-impaired intellectual development syndrome (BIS) is a congenital disorder characterized by a distinct facial appearance with blepharophimosis and global development delay. Affected individuals have delayed motor skills, sometimes with inability to walk, and impaired intellectual development with poor or absent speech; some patients show behavioral abnormalities. There are recognizable facial features, including epicanthal folds, sparse eyebrows, broad nasal bridge, short nose with downturned tip, and open mouth with thin upper lip. Other more variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity (summary by Cappuccio et al., 2020).
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
MedGen UID:
1794194
Concept ID:
C5561984
Disease or Syndrome
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton et al., 2020).
Combined oxidative phosphorylation deficiency 55
MedGen UID:
1806598
Concept ID:
C5676915
Disease or Syndrome
Combined oxidative phosphorylation deficiency-55 (COXPD55) is characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia phenotype has been described in 1 patient (summary by Olahova et al., 2021). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
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
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(1_suppl):S1-S42. doi: 10.1177/0194599818801757. PMID: 30798778

Recent clinical studies

Etiology

Silvestri R
Sleep Med Clin 2024 Mar;19(1):169-176. Epub 2023 Nov 13 doi: 10.1016/j.jsmc.2023.10.009. PMID: 38368063
Aral A, Usta MB, Erguner Aral A
Bull Menninger Clin 2022 Winter;86(1):67-89. doi: 10.1521/bumc.2022.86.1.67. PMID: 35258343
Çelakıl M
Pediatr Int 2021 May;63(5):565-569. Epub 2021 Apr 28 doi: 10.1111/ped.14494. PMID: 33012049
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
Thiedke CC
Am Fam Physician 2003 Apr 1;67(7):1499-506. PMID: 12722850

Diagnosis

Guzman JA, Palmer LS
Pediatr Rev 2024 Aug 1;45(8):479-481. doi: 10.1542/pir.2023-006166. PMID: 39085181
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
Graham KM, Levy JB
Pediatr Rev 2009 May;30(5):165-72; quiz 173. doi: 10.1542/pir.30-5-165. PMID: 19411333
McLorie GA, Husmann DA
Pediatr Clin North Am 1987 Oct;34(5):1159-74. doi: 10.1016/s0031-3955(16)36324-6. PMID: 3309849

Therapy

Kushida CA, Shapiro CM, Roth T, Thorpy MJ, Corser BC, Ajayi AO, Rosenberg R, Roy A, Seiden D, Dubow J, Dauvilliers Y
Sleep 2022 Jun 13;45(6) doi: 10.1093/sleep/zsab200. PMID: 34358324Free PMC Article
Chan IHY, Wong KKY
Hong Kong Med J 2019 Aug;25(4):305-11. Epub 2019 Aug 5 doi: 10.12809/hkmj197916. PMID: 31395789
Chua ME, Silangcruz JM, Chang SJ, Williams K, Saunders M, Lopes RI, Farhat WA, Yang SS
Pediatrics 2016 Jul;138(1) Epub 2016 Jun 24 doi: 10.1542/peds.2016-0495. PMID: 27343233
Prescrire Int 2012 May;21(127):129. PMID: 22844682
Gowdey CW
Can Med Assoc J 1983 Apr 15;128(8):921-5. PMID: 6339023Free PMC Article

Prognosis

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
Makari J, Rushton HG
Am Fam Physician 2006 May 1;73(9):1611-3. PMID: 16719255
Robson WL, Leung AK
Clin Pediatr (Phila) 2000 Jul;39(7):379-85. doi: 10.1177/000992280003900701. PMID: 10914301
McConaghy N
Semin Psychiatry 1972 May;4(2):139-44. PMID: 4680217
Parks AG
Adv Surg 1971;5:1-50. PMID: 4942939

Clinical prediction guides

Aral A, Usta MB, Erguner Aral A
Bull Menninger Clin 2022 Winter;86(1):67-89. doi: 10.1521/bumc.2022.86.1.67. PMID: 35258343
Wei DY, Drake MJ
Curr Opin Urol 2016 Jan;26(1):11-6. doi: 10.1097/MOU.0000000000000243. PMID: 26555692
Phung P, Kelsberg G, Safranek S
J Fam Pract 2015 Apr;64(4):250-9. PMID: 25973452
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

Arasteh A, Mostafavi S, Zununi Vahed S, Mostafavi Montazeri SS
Biomed Pharmacother 2021 Oct;142:112027. Epub 2021 Aug 12 doi: 10.1016/j.biopha.2021.112027. PMID: 34392083
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
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
Lyon C, Schnall J
J Fam Pract 2005 Oct;54(10):905-6, 909. PMID: 16202382

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