■歌舞uki综合征(KS)与先天性高胰岛素血症(HI)有关。
■表征KS患儿HI的临床和分子特征。
■在1998年至2023年之间评估的KS和HI儿童的回顾性队列研究。
■费城儿童医院先天性高胰岛素血症中心。
■33名患有KS和HI的儿童。
■HI演示文稿,治疗,当然,和基因型。
■25名儿童(76%)在出生后的第一天就发现了低血糖。HI诊断时的中位年龄为1.8个月(四分位间距[IQR],0.6-6.1个月)。KS诊断时的中位年龄为5个月(IQR,2-14个月)。在20名儿童(61%)中,HI的诊断先于KS的诊断。24名儿童(73%)在KMT2D中有致病性变异,5名儿童(15%)在KDM6A中具有致病性变异,4名儿童(12%)临床诊断为KS。二氮嗪试验在25名儿童中进行,92%的人有反应。在中位年龄2.8岁时,46%的队列停止了HI治疗(IQR,1.3-5.7年)。
■大多数患有KS和HI的儿童在出生时就发现低血糖,但HI诊断经常延迟。在大多数儿童中,用二氮嗪有效地控制了HI。与以前的报告相比,KMT2D和KDM6A的变异频率与KS患者的总体患病率相似.诊断为KS的儿童应接受HI评估,and,因为KS特征在婴儿期可能无法识别,KMT2D和KDM6A应包括在HI的遗传评估中。
UNASSIGNED: Kabuki syndrome (KS) is associated with congenital hyperinsulinism (HI).
UNASSIGNED: To characterize the clinical and molecular features of HI in children with KS.
UNASSIGNED: Retrospective cohort study of children with KS and HI evaluated between 1998 and 2023.
UNASSIGNED: The Congenital Hyperinsulinism Center of the Children\'s Hospital of Philadelphia.
UNASSIGNED: Thirty-three children with KS and HI.
UNASSIGNED: HI presentation, treatment, course, and genotype.
UNASSIGNED: Hypoglycemia was recognized on the first day of life in 25 children (76%). Median age at HI diagnosis was 1.8 months (interquartile range [IQR], 0.6-6.1 months). Median age at KS diagnosis was 5 months (IQR, 2-14 months). Diagnosis of HI preceded KS diagnosis in 20 children (61%). Twenty-four children (73%) had a pathogenic variant in
KMT2D, 5 children (15%) had a pathogenic variant in KDM6A, and 4 children (12%) had a clinical diagnosis of KS. Diazoxide trial was conducted in 25 children, 92% of whom were responsive. HI treatment was discontinued in 46% of the cohort at median age 2.8 years (IQR, 1.3-5.7 years).
UNASSIGNED: Hypoglycemia was recognized at birth in most children with KS and HI, but HI diagnosis was often delayed. HI was effectively managed with diazoxide in most children. In contrast to prior reports, the frequency of variants in
KMT2D and KDM6A were similar to their overall prevalence in individuals with KS. Children diagnosed with KS should undergo evaluation for HI, and, because KS features may not be recognized in infancy,
KMT2D and KDM6A should be included in the genetic evaluation of HI.