Anaesthesia recommendations for Zhu-Tokita-Takenouchi-Kim
syndrome

J 2023

Anaesthesia recommendations for Zhu-Tokita-Takenouchi-Kim syndrome

HUDEC, Jan a Martina KOSINOVÁ

Základní údaje

Originální název

Anaesthesia recommendations for Zhu-Tokita-Takenouchi-Kim syndrome

Autoři

HUDEC, Jan (203 Česká republika, domácí) a Martina KOSINOVÁ (203 Česká republika, domácí)

Vydání

ANASTHESIOLOGIE & INTENSIVMEDIZIN, GERMANY, AKTIV DRUCK & VERLAG GMBH, 2023, 0170-5334

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30223 Anaesthesiology

Stát vydavatele

Německo

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 0.700 v roce 2022

Kód RIV

RIV/00216224:14110/23:00131941

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.19224/ai2023.s332

UT WoS

001163467200002

Klíčová slova anglicky

Zhu-Tokita-Takenouchi-Kim syndrome; ICD 10: Q87.8; ZTTK syndrome

Štítky

14110233, 14110322, 14110528

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 4. 3. 2024 07:41, Mgr. Tereza Miškechová

Anotace

V originále

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.

Citovat

HUDEC, Jan a Martina KOSINOVÁ. Anaesthesia recommendations for Zhu-Tokita-Takenouchi-Kim syndrome. ANASTHESIOLOGIE & INTENSIVMEDIZIN. GERMANY: AKTIV DRUCK & VERLAG GMBH, 2023, roč. 64, č. 10, s. "S332"-"S339", 8 s. ISSN 0170-5334. Dostupné z: https://dx.doi.org/10.19224/ai2023.s332.

@article{2326963,
   author = {Hudec, Jan and Kosinová, Martina},
   article_location = {GERMANY},
   article_number = {10},
   doi = {http://dx.doi.org/10.19224/ai2023.s332},
   keywords = {Zhu-Tokita-Takenouchi-Kim syndrome; ICD 10: Q87.8; ZTTK syndrome},
   language = {eng},
   issn = {0170-5334},
   journal = {ANASTHESIOLOGIE & INTENSIVMEDIZIN},
   title = {Anaesthesia recommendations for Zhu-Tokita-Takenouchi-Kim syndrome},
   url = {https://www.ai-online.info/supplements/2023/12-2023/zhu-tokita-takenouchi-kim-syndrome.html?backto=107},
   volume = {64},
   year = {2023}
}

TY  - JOUR
ID  - 2326963
AU  - Hudec, Jan - Kosinová, Martina
PY  - 2023
TI  - Anaesthesia recommendations for Zhu-Tokita-Takenouchi-Kim syndrome
JF  - ANASTHESIOLOGIE & INTENSIVMEDIZIN
VL  - 64
IS  - 10
SP  - "S332"-"S339"
EP  - "S332"-"S339"
PB  - AKTIV DRUCK & VERLAG GMBH
SN  - 01705334
KW  - Zhu-Tokita-Takenouchi-Kim syndrome
KW  - ICD 10: Q87.8
KW  - ZTTK syndrome
UR  - https://www.ai-online.info/supplements/2023/12-2023/zhu-tokita-takenouchi-kim-syndrome.html?backto=107
N2  - 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.
ER  -

HUDEC, Jan a Martina KOSINOVÁ. Anaesthesia recommendations for Zhu-Tokita-Takenouchi-Kim syndrome. \textit{ANASTHESIOLOGIE \&{} INTENSIVMEDIZIN}. GERMANY: AKTIV DRUCK \&{} VERLAG GMBH, 2023, roč.~64, č.~10, s.~''S332''-''S339'', 8 s. ISSN~0170-5334. Dostupné z: https://dx.doi.org/10.19224/ai2023.s332.

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