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Functional abnormality of the bladder

MedGen UID:
812913
•Concept ID:
C3806583
•
Finding
Synonym: Poor bladder function
 
HPO: HP:0000009

Definition

Dysfunction of the urinary bladder. [from HPO]

Conditions with this feature

X-linked immunoneurologic disorder
MedGen UID:
341162
•Concept ID:
C1848144
•
Disease or Syndrome
A syndrome with characteristics of immune deficiency and neurological disorders in females and neonatal death in males. The syndrome has been described in only one family with nine affected individuals (five males and four females) spanning two generations. Symptomatic females present slowly progressive proximal muscle weakness, leg hyperreflexia, pes cavus, increased muscle tone in the legs, poor bladder function, static reduced night vision and frequent sinopulmonary infections associated with IgG2 deficiency. Males present with low birth weight and severe hypotonia that leads to death in the neonatal period. The gene locus has been mapped to Xq26-qter.
See: Condition Record
Spastic paraplegia 89, autosomal recessive
MedGen UID:
1841167
•Concept ID:
C5830531
•
Disease or Syndrome
Autosomal recessive spastic paraplegia-89 (SPG89) is characterized by symptom onset in the first years of life. Affected individuals show delayed motor development with abnormal spastic gait and hyperreflexia of the lower limbs. Some patients may have mildly impaired intellectual development or learning difficulties (Deng et al., 2023). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).
See: Condition Record
Spastic paraplegia 89, autosomal recessive
X-linked immunoneurologic disorder

Professional guidelines

PubMed

Application of nanotechnology in the diagnosis and treatment of bladder cancer.
Xu Y, Luo C, Wang J, Chen L, Chen J, Chen T, Zeng Q
J Nanobiotechnology 2021 Nov 27;19(1):393. doi: 10.1186/s12951-021-01104-y. PMID: 34838048Free PMC Article
Contemporary Management of Urinary Tract Infection in Children.
Mattoo TK, Shaikh N, Nelson CP
Pediatrics 2021 Feb;147(2) doi: 10.1542/peds.2020-012138. PMID: 33479164
Diagnosis, treatment, and prevention of cerebral palsy.
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article

Recent clinical studies

Etiology

Urologic guidelines for the care and management of people with spina bifida.
Joseph DB, Baum MA, Tanaka ST, Frimberger DC, Misseri R, Khavari R, Baillie S, Yerkes EB, Wood H
J Pediatr Rehabil Med 2020;13(4):479-489. doi: 10.3233/PRM-200712. PMID: 33252091Free PMC Article
Urinary Tract Infections in Young Children and Infants: Common Questions and Answers.
Veauthier B, Miller MV
Am Fam Physician 2020 Sep 1;102(5):278-285. PMID: 32866365
Management of vesicoureteral reflux in neurogenic bladder.
Wu CQ, Franco I
Investig Clin Urol 2017 Jun;58(Suppl 1):S54-S58. Epub 2017 Jun 2 doi: 10.4111/icu.2017.58.S1.S54. PMID: 28612061Free PMC Article
The neurogenic bladder: introducing four contributions.
Proesmans W
Pediatr Nephrol 2008 Apr;23(4):537-40. Epub 2008 Feb 16 doi: 10.1007/s00467-008-0768-3. PMID: 18278519
Posterior urethral valves.
Agusta VE, Howards SS
J Urol 1974 Aug;112(2):280-4. doi: 10.1016/s0022-5347(17)59707-4. PMID: 4858412

Diagnosis

Application of nanotechnology in the diagnosis and treatment of bladder cancer.
Xu Y, Luo C, Wang J, Chen L, Chen J, Chen T, Zeng Q
J Nanobiotechnology 2021 Nov 27;19(1):393. doi: 10.1186/s12951-021-01104-y. PMID: 34838048Free PMC Article
Urinary Tract Infections in Young Children and Infants: Common Questions and Answers.
Veauthier B, Miller MV
Am Fam Physician 2020 Sep 1;102(5):278-285. PMID: 32866365
Editorial. Paediatric urology.
Peters CA
Curr Opin Urol 2009 Jul;19(4):395-6. doi: 10.1097/MOU.0b013e32832c918d. PMID: 19483500
Megacystis in the first trimester.
Sepulveda W
Prenat Diagn 2004 Feb;24(2):144-9. doi: 10.1002/pd.790. PMID: 14974124
Incontinence.
Edwards LE
Practitioner 1975 Jan;214(1279):46-55. PMID: 1096112

Therapy

Definition, diagnosis and management of fetal lower urinary tract obstruction: consensus of the ERKNet CAKUT-Obstructive Uropathy Work Group.
Capone V, Persico N, Berrettini A, Decramer S, De Marco EA, De Palma D, Familiari A, Feitz W, Herthelius M, Kazlauskas V, Liebau M, Manzoni G, Maternik M, Mosiello G, Schanstra JP, Vande Walle J, Wühl E, Ylinen E, Zurowska A, Schaefer F, Montini G
Nat Rev Urol 2022 May;19(5):295-303. Epub 2022 Feb 8 doi: 10.1038/s41585-022-00563-8. PMID: 35136187
Application of nanotechnology in the diagnosis and treatment of bladder cancer.
Xu Y, Luo C, Wang J, Chen L, Chen J, Chen T, Zeng Q
J Nanobiotechnology 2021 Nov 27;19(1):393. doi: 10.1186/s12951-021-01104-y. PMID: 34838048Free PMC Article
Urinary Tract Infections in Young Children and Infants: Common Questions and Answers.
Veauthier B, Miller MV
Am Fam Physician 2020 Sep 1;102(5):278-285. PMID: 32866365
Urinary tract infection: clinical practice guideline for the diagnosis and management of the initial UTI in febrile infants and children 2 to 24 months.
Subcommittee on Urinary Tract Infection, Steering Committee on Quality Improvement and Management, Roberts KB
Pediatrics 2011 Sep;128(3):595-610. Epub 2011 Aug 28 doi: 10.1542/peds.2011-1330. PMID: 21873693
Incontinence.
Edwards LE
Practitioner 1975 Jan;214(1279):46-55. PMID: 1096112

Prognosis

The value of ATAD3A as a potential biomarker for bladder cancer.
Liu Z, Sun L, Zheng B, Wang H, Qin X, Zhang P, Wo Q, Li H, Mou Y, Zhang D, Wang S
Cancer Med 2023 Dec;12(24):22395-22406. Epub 2023 Nov 28 doi: 10.1002/cam4.6759. PMID: 38018291Free PMC Article
Urinary Tract Infections in Young Children and Infants: Common Questions and Answers.
Veauthier B, Miller MV
Am Fam Physician 2020 Sep 1;102(5):278-285. PMID: 32866365
Megacystis in the first trimester.
Sepulveda W
Prenat Diagn 2004 Feb;24(2):144-9. doi: 10.1002/pd.790. PMID: 14974124
Anorectal malformations.
Peña A
Semin Pediatr Surg 1995 Feb;4(1):35-47. PMID: 7728507
Posterior urethral valves.
Agusta VE, Howards SS
J Urol 1974 Aug;112(2):280-4. doi: 10.1016/s0022-5347(17)59707-4. PMID: 4858412

Clinical prediction guides

The term CAKUT has outlived its usefulness: the case for the prosecution.
Woolf AS
Pediatr Nephrol 2022 Nov;37(11):2785-2791. Epub 2022 May 16 doi: 10.1007/s00467-022-05576-4. PMID: 35575937Free PMC Article
Placenta accreta spectrum: pathophysiology and evidence-based anatomy for prenatal ultrasound imaging.
Jauniaux E, Collins S, Burton GJ
Am J Obstet Gynecol 2018 Jan;218(1):75-87. Epub 2017 Jun 24 doi: 10.1016/j.ajog.2017.05.067. PMID: 28599899
Imaging bladder sensations.
Griffiths D
Neurourol Urodyn 2007 Oct;26(6 Suppl):899-903. doi: 10.1002/nau.20488. PMID: 17654564
Diabetic autonomic neuropathy.
Clarke BF, Ewing DJ, Campbell IW
Diabetologia 1979 Oct;17(4):195-212. doi: 10.1007/BF01235856. PMID: 387501
The role of intermittent catheterization in the management of children with myelomeningocele.
Drago JR, Wellner L, Sanford EJ, Rohner TJ Jr
J Urol 1977 Jul;118(1 Pt 1):92-4. doi: 10.1016/s0022-5347(17)57901-x. PMID: 327099

Recent systematic reviews

Cancer in Costello syndrome: a systematic review and meta-analysis.
Astiazaran-Symonds E, Ney GM, Higgs C, Oba L, Srivastava R, Livinski AA, Rosenberg PS, Stewart DR
Br J Cancer 2023 Jun;128(11):2089-2096. Epub 2023 Mar 25 doi: 10.1038/s41416-023-02229-7. PMID: 36966234Free PMC Article
ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.
De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
Magrinelli F, Mehta S, Di Lazzaro G, Latorre A, Edwards MJ, Balint B, Basu P, Kobylecki C, Groppa S, Hegde A, Mulroy E, Estevez-Fraga C, Arora A, Kumar H, Schneider SA, Lewis PA, Jaunmuktane Z, Revesz T, Gandhi S, Wood NW, Hardy JA, Tinazzi M, Lal V, Houlden H, Bhatia KP
Mov Disord 2022 Jan;37(1):148-161. Epub 2021 Oct 8 doi: 10.1002/mds.28807. PMID: 34622992
Management of Intradiverticular Bladder Tumours: A Systematic Review.
Poletajew S, Krajewski W, Adamowicz J, Kołodziej A, Zdrojowy R, Radziszewski P
Urol Int 2020;104(1-2):42-47. Epub 2019 Dec 18 doi: 10.1159/000503868. PMID: 31851992
Follow-up of the neuro-urological patient: a systematic review.
Averbeck MA, Madersbacher H
BJU Int 2015 Apr;115 Suppl 6:39-46. doi: 10.1111/bju.13084. PMID: 25891319

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