Anaesthesia recommendations for Zhu-Tokita-Takenouchi-Kim syndrome

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216224:14110/23:00131941

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Anaesthesia recommendations for Zhu-Tokita-Takenouchi-Kim syndrome

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Anaesthesia recommendations for Zhu-Tokita-Takenouchi-Kim syndrome

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30223 - Anaesthesiology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2023

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Anasthesiologie &amp; Intensivmedizin

ISSN

0170-5334

e-ISSN

1439-0256

Svazek periodika

64

Číslo periodika v rámci svazku

Suppl 12

Stát vydavatele periodika

DE - Spolková republika Německo

Počet stran výsledku

8

Strana od-do

"S332"-"S339"

Kód UT WoS článku

001163467200002

EID výsledku v databázi Scopus

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