Perspectives on urological care in spina bifida patients.
myelomeningocele
neuropathic bladder
spina bifida
urology
Journal
Intractable & rare diseases research
ISSN: 2186-3644
Titre abrégé: Intractable Rare Dis Res
Pays: Japan
ID NLM: 101586847
Informations de publication
Date de publication:
Feb 2021
Feb 2021
Historique:
entrez:
22
2
2021
pubmed:
23
2
2021
medline:
23
2
2021
Statut:
ppublish
Résumé
Spina bifida (SB) is a neurogenetic disorder with a complex etiology that involves genetic and environmental factors. SB can occur in two major forms of open SB or SB aperta and closed SB or SB occulta. Myelomeningocele (MMC), the most common neural tube defects (NTDs), occurs in approximately 1 in 1,000 births. Considering non-genetic factors, diminished folate status is the best-known factor influencing NTD risk. The methylenetetrahydrofolate reductase (MTHFR) gene has been implicated as a risk factor for NTDs. The primary disorder in the pathogenesis of MMC is failed neural tube closure in the embryonic spinal region. The clinical manifestation of SB depends on clinical type and severity. SB can be detected in the second trimester using ultrasound which will reveal specific cranial signs. The management of MMC traditionally involves surgery within 48 h of birth. Prenatal repair of MMC is recommended for fetuses who meet maternal and fetal Management of Myelomeningocele Study (MOMS) specified criteria. Urological manifestations of SB include urinary incontinence, urolithiasis, sexual dysfunction, renal dysfunction, and urinary tract infection. Renal failure is among the most severe complications of SB. The most important role of the urologist is the management of neurogenic bladder. Medical management with clean intermittent catheterization and anticholinergic treatment is generally considered the gold standard of therapy. However, when this therapy fails surgical reconstruction become the only remaining option. This review will summarize the pathogenesis, risk factors, genetic contribution, diagnostic test, and management of SB. Lastly, the urologic outcomes and therapies are reviewed.
Identifiants
pubmed: 33614369
doi: 10.5582/irdr.2020.03077
pmc: PMC7882087
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
1-10Informations de copyright
2021, International Research and Cooperation Association for Bio & Socio - Sciences Advancement.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to disclose.
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