TY - JOUR
T1 - Case report of pediatric channelopathies with UNC80 and KCNJ11 mutations having abnormal respiratory control treated with positive airway pressure therapy
AU - Hong, Hanna
AU - Kamerman-Kretzmer, Rory
AU - Kato, Roberta
AU - Rosser, Tena
AU - VanHirtum-Das, Michele
AU - Davidson Ward, Sally L.
PY - 2018/8/15
Y1 - 2018/8/15
N2 - There have been no published reports of central respiratory control abnormalities in pediatric patients with UNC80 or KCNJ11 mutations which cause neurologic channelopathies. We describe an 8-year-old male with a pathogenic UNC80 mutation, intellectual disability, hypotonia and epilepsy with severe central sleep apnea (213.5 events/h) on polysomnography (PSG). We also describe a 20-month-old female with a KCNJ11 mutation, neonatal diabetes and developmental delay who had severe central sleep apnea (131.1 events/h). Both patients had irregular respiratory patterns during sleep and wakefulness and were placed on empiric bilevel positive airway pressure therapy, which was well tolerated with resolution of abnormal respiratory control and hypercapnia. Patients with UNC80 and KCNJ11 gene mutations may have abnormal respiratory rhythm during sleep and wakefulness, mirroring animal models. We recommend routine PSG tests and further investigation into the respiratory control of patients with pediatric channelopathies involved in chemoreceptor function or central integration of respiratory control.
AB - There have been no published reports of central respiratory control abnormalities in pediatric patients with UNC80 or KCNJ11 mutations which cause neurologic channelopathies. We describe an 8-year-old male with a pathogenic UNC80 mutation, intellectual disability, hypotonia and epilepsy with severe central sleep apnea (213.5 events/h) on polysomnography (PSG). We also describe a 20-month-old female with a KCNJ11 mutation, neonatal diabetes and developmental delay who had severe central sleep apnea (131.1 events/h). Both patients had irregular respiratory patterns during sleep and wakefulness and were placed on empiric bilevel positive airway pressure therapy, which was well tolerated with resolution of abnormal respiratory control and hypercapnia. Patients with UNC80 and KCNJ11 gene mutations may have abnormal respiratory rhythm during sleep and wakefulness, mirroring animal models. We recommend routine PSG tests and further investigation into the respiratory control of patients with pediatric channelopathies involved in chemoreceptor function or central integration of respiratory control.
KW - Central apnea
KW - Channelopathy
KW - Pediatrics
KW - Positive airway pressure
KW - Respiratory control
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U2 - 10.5664/jcsm.7288
DO - 10.5664/jcsm.7288
M3 - Article
C2 - 30092901
AN - SCOPUS:85051524630
VL - 14
SP - 1419
EP - 1425
JO - Journal of Clinical Sleep Medicine
JF - Journal of Clinical Sleep Medicine
SN - 1550-9389
IS - 8
ER -