Anaesthesia recommendations for Zhu-Tokita-Takenouchi-Kim syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F23%3A00079051" target="_blank" >RIV/65269705:_____/23:00079051 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/23:00131941
Result on the web
<a href="https://www.ai-online.info/supplements/2023/12-2023/zhu-tokita-takenouchi-kim-syndrome.html?backto=107" target="_blank" >https://www.ai-online.info/supplements/2023/12-2023/zhu-tokita-takenouchi-kim-syndrome.html?backto=107</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.19224/ai2023.S332" target="_blank" >10.19224/ai2023.S332</a>
Alternative languages
Result language
angličtina
Original language name
Anaesthesia recommendations for Zhu-Tokita-Takenouchi-Kim syndrome
Original language description
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare multi-organ disease. First cases were mentioned in 2015. This syndrome is typically inherited in an autosomal dominant manner (typically de novo) and is caused by heterozygous mutations in the SON gene (21q22.11).Mutations in this gene lead to abnormal RNA splicing processes, which are essential for metabolic functions and neurodevelopment, including neural cell migration and/or renal development.This disorder can be suspected prenatally through intrauterine growth retardation. ZTTK syndrome abnormalities include a delay of global development, brain abnormalities like corpus callosum abnormalities, ventriculomegaly or cerebellar abnormalities, seizures, and generalised hypotonia. Facial dysmorphism is presented by short philtrum, microcephaly, wide nasal bridge, and midface retrusion. Other abnormalities include scoliosis, joint and muscle contractures, joint hypermobility, visceral malformations like a horseshoe or unilateral kidney, gastrointestinal malformations, or cardiac disorders like an atrial or ventricular septal defect.Patients suffering from ZTTK syndrome can be indicated for corrections of cardiovascular or urogenital abnormalities in addition to surgery for musculoskeletal deformations. Anaesthesiologists have to focus on continual close monitoring due to the potential risk of perioperative complications like difficult airway management (DAM), anaesthesia-induced rhabdomyolysis (AIR), or inspiratory stridor after extubation. Rhabdomyolysis represents a potentially life-threatening complication, especially in these patients suffering from a neuromuscular disorder. Anaesthesiologists should prefer total intravenous anaesthesia (TIVA), eventually with nondepolarising myorelaxants and, avoid volatile anaesthetics and succinylcholine.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30223 - Anaesthesiology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Anasthesiologie & Intensivmedizin
ISSN
0170-5334
e-ISSN
1439-0256
Volume of the periodical
64
Issue of the periodical within the volume
Suppl 12
Country of publishing house
DE - GERMANY
Number of pages
8
Pages from-to
"S332"-"S339"
UT code for WoS article
001163467200002
EID of the result in the Scopus database
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