Diabetic lipemia as a predisposing state to acute pancreatitis: a case report and literature review.

Hypertriglyceridemia has been recognized as a common complication of diabetes ketoacidosis (DKA), whereas severe hypertriglyceridemia, also known as diabetic lipemia, rarely occurs and is associated with an increasing risk of acute pancreatitis. We report the case of a 4-year-old girl with new-onset DKA associated with remarkable hypertriglyceridemia. Her serum triglyceride (TG) level was as high as 2490 mg/dL on admission and 11,072 mg/dL on day two during treatment with hydration and intravenous insulin infusion, whereas the critical situation was successfully stabilized by standard treatment for DKA without the occurrence of pancreatitis. We reviewed 27 cases of diabetic lipemia with or without pancreatitis that were described in the relevant literature to identify risk factors for the occurrence of pancreatitis in children with DKA. As a result, the severity of hypertriglyceridemia or ketoacidosis, age at onset, type of diabetes, and presence of systemic hypotension, were not associated with the development of pancreatitis; however, the occurrence of pancreatitis in girls over 10 years old tended to be higher than that in boys. The serum TG levels and DKA successfully normalized in most of the cases with insulin infusion therapy with hydration, without other specific treatments (e.g., heparin therapy and plasmapheresis). We conclude that the occurrence of acute pancreatitis in diabetic lipemia could be avoided with appropriate hydration and insulin therapy, without specific treatment for hypertriglyceridemia.

Long-term trends of pediatric type 1 diabetes incidence in Japan before and after the COVID-19 pandemic.

Type 1 diabetes incidence has increased worldwide, although the long-term trends on pediatric type 1 diabetes in Japan remain elusive. To investigate the incidence and secular trend of pediatric type 1 diabetes from 1999 to 2021, including the coronavirus disease 2019 (COVID-19) pandemic years, in Oita Prefecture, Japan. We investigated the number of newly diagnosed patients with type 1 diabetes aged < 15 years from 1999 to 2021. We surveyed hospital databases in Oita Prefecture in Japan. The type 1 diabetes incidence in children aged < 15 years increased annually by 5.3% among all children, especially in boys aged 10-14 years by 8.1%, over the past 23 years. The average incidence rate of 3.9/100,000/year was nearly consistent with the previous reports on Asian countries. No significant change was found in the increasing incidence trend of type 1 diabetes before and during the COVID-19 pandemic. The incidence of pediatric type 1 diabetes has significantly increased over the past 23 years in Oita Prefecture, Japan, which is consistent with the worldwide trend.

X-linked mental retardation and severe short stature with a novel mutation of the KDM5C gene.

Many monogenetic disorders of short stature have autosomal recessive/dominant form of inheritance. However, X-linked short stature has not been well recognized. Herein, we report a case of a boy from a family with familial severe short stature and mental retardation, who displayed an X-linked recessive trait. The boy at the age of 4 yr and 6 mo presented with remarkable growth failure (height: 76.5 cm [-6.3 SD]) and mental retardation (IQ: 30) and cerebellar volume loss and without an external anomaly or microcephaly to our hospital. A careful interview to determine the family history suggested a genetic background of familial mental retardation and short stature. His mother had mild intellectual disability with normal stature and his maternal uncle had severe mental retardation with remarkably short stature. Whole-exome sequencing identified a pathogenic variant in the KDM5C gene, NM_004187: exon 23: c.3874_3875del: (p.Ala1292Glnfs*7). He presented with a novel frameshift mutation. His mother was a heterozygous carrier of the variant. This case suggests that a disorder associated with the KDM5C gene should be considered when patients present with remarkably short stature and X-linked mental retardation.

A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess.

HDR syndrome is characterized by the triad of primary hypoparathyroidism, sensorineural hearing loss and renal malformation with widely variable manifestations. It is an autosomal dominant inherited disease caused by a mutation of the GATA3 (NM_001002295.2), which is located on chromosome 10p14. Congenital heart disease, such as tetralogy of Fallot, a typical complication of DiGeorge syndrome, is a rare complication of HDR syndrome. We herein report a case of HDR syndrome coexisting tetralogy of Fallot with a novel mutation, c.964C > T (p.Gln322*). This case suggested that the screening of renal involvement should be carefully performed in patients with a phenotypic combination of hypoparathyroidism and sensorineural hearing loss, to facilitate the early diagnosis of HDR syndrome. In addition, when the deletion of chromosome 22q11.2 is not detected by a fluorescence in situ hybridization analysis in patients exhibiting the partial phenotype of DiGeorge syndrome, the possibility of HDR syndrome should be considered and the renal function should be repeatedly evaluated.