Whole exome sequencing identifies three novel gene mutations in patients with the triad of diabetic ketoacidosis, hypertriglyceridemia, and acute pancreatitis

Huang, Zixi; Xu, Zhenyan; Xu, Ruoqing; Huang, Lin; Xu, Xiao‐Jun; Lai, Xiulan

doi:10.1111/1753-0407.13100

Cited by 11 publications

(10 citation statements)

References 40 publications

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“…A heparina pode ser utilizada para auxiliar na redução dos níveis de TG, pois induz a liberação de lipase das células endoteliais, degradando os triglicerídeos. A hidratação, analgesia e jejum também fazem parte do tratamento desse distúrbio concomitante (Huang;Xu;Xu, 2020;Park, 2021).…”

Section: Resultsunclassified

Relação entre pancreatite aguda e emergências diabéticas: uma revisão de literatura

Mundoca

Lima

Filho

et al. 2022

RSD

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A pancreatite aguda (PA) é uma doença inflamatória que afeta o pâncreas e os tecidos peripancreáticos, enquanto que a ceatoacidose diabética (CAD) é uma alteração metabólica decorrente de um estado hiperglicêmico, com um estado de acidose metabólica e cetose. Cerca de 77% dos pacientes com CAD possuem sinais de doença pancreática. O objetivo deste estudo é analisar a correlação da PA com as emergências diabéticas e estimular os profissionais da área médica a explorar essa temática diante do crescente números de casos de PA associados a CAD. Trata-se de uma revisão integrativa da literatura realizada por meio de pesquisas eletrônicas nas seguintes bases de dados: PubMed, Scielo e Lilacs no mês de março de 2022. Nessas pesquisas, foram aplicados os seguintes descritores em conjunto com o operador booleano AND: Pancreatitis AND Hyperosmolar Hyperglycemic State AND Diabetic Ketoacidosis, Pancreatitis AND Hyperosmolar Hyperglycemic State e Pancreatitis AND Diabetic Ketoacidosis. A pergunta norteadora para guiar a busca correta dos artigos foi “Qual a relação da pancreatite aguda com as emergências diabéticas?” A pesquisa foi realizada a partir de uma revisão de estudos publicados sobre a relação da CAD ou estado hiperosmolar hiperglicêmico (EHH) com a PA, e a associação entre causa e efeito. Além disso, a maioria dos artigos evidenciaram como consequência desse estado hiperglicêmico, o desenvolvimento da hipertrigliceridemia (HTG). Os relatos seguem dois vieses fisiopatológicos, sendo o primeiro correlacionando cetoacidose como causa da pancreatite aguda, e o segundo fundamentado na pancreatite aguda como causa da cetoacidose diabética. Conclui-se que a relação entre PA e emergências diabéticas se apresenta de diversas maneiras. Há casos em que a inflamação pancreática é responsável pelas complicações e casos em que é consequência destas. A hipertrigliceridemia também está presente e pode, muitas vezes, ser a causadora da pancreatite aguda em conjunto com a cetoacidose.

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Section: Resultsunclassified

Relação entre pancreatite aguda e emergências diabéticas: uma revisão de literatura

Mundoca

Lima

Filho

et al. 2022

RSD

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“…The patients were treated with plasmapheresis, hydration, and intravenous insulin therapy. 7 Donelli et al described the case of a 37-year old Chinese man who had a similar presentation and a triglyceride level greater than 7000 mg/dL on admission. This patient was treated with therapeutic plasma exchange, establishing the safety and efficacy of the same for treating extremely high elevation of triglyceride levels.…”

Section: Discussionmentioning

confidence: 99%

Diabetic Ketoacidosis and Hypertriglyceridemia-induced Pancreatitis: Can the Perfect Storm Happen Twice?

Tiperneni¹,

Padappayil²,

Mohan³

et al. 2022

Journal of Community Hospital Internal Medicine Perspectives

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This case report describes the recurrence of diabetic ketoacidosis (DKA) leading to hypertriglyceridemia-induced pancreatitis. Hypertriglyceridemia is present in 2–5% of patients with diabetic ketoacidosis. Hypertriglyceridemiainduced pancreatitis occurs in up to 4% of patients with diabetic ketoacidosis and is a well-reported complication. This is the first case report to the author’s knowledge, where the same patient had two separate episodes of acute pancreatitis that have been attributed to diabetic ketoacidosis and resultant severe hypertriglyceridemia, etiology determined to be medication non-compliance. DKA and acute pancreatitis can co-exist, and hypertriglyceridemia has been the predominant pathogenetic link between the two conditions. We also describe the pathophysiology and treatment of hyper-triglyceridemia-induced pancreatitis in diabetic ketoacidosis.

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“…Insulin deficiency increases lipolysis in adipose tissue, resulting in the release of free fatty acids. Recent studies have suggested that the mechanisms responsible for hypertriglyceridemia-induced AP are related to the accumulation of free fatty acids (FFAs) ( 18 ). In this investigation, we discovered that individuals with AP had considerably higher serum triglyceride and cholesterol levels than those without AP.…”

Section: Discussionmentioning

confidence: 99%

Diabetic Ketoacidosis With Acute Pancreatitis in Patients With Type 2 Diabetes in the Emergency Department: A Retrospective Study

Cui

et al. 2022

Front. Med.

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ObjectiveThis study aims to explore the incidence and clinical features of acute pancreatitis (AP) in patients with type 2 diabetes diabetic ketoacidosis (DKA) in the emergency department and discuss the predictive value of some pathological indicators for AP in DKA.MethodsInpatient medical data of DKA patients hospitalized to our hospital's emergency department between January 2017 and January 2021 were evaluated retrospectively. These DKA patients were split into two groups based on whether they had AP or not. We examined the two groups' epidemiologic features, baseline laboratory results, and clinical outcomes. The Bedside Index for Sequential Organ Failure Assessment (SOFA), Acute Physiology and Chronic Health Evaluation II (APACHE II), and Logistic Organ Failure System (LODS) scores were computed and compared across groups.ResultsThe prevalence of AP in DKA patients was 15.53%. The difference in Abdominal pain between the two groups of patients was statistically significant (p < 0.001), and there was no statistical difference in age, gender, and BMI. The DKA and AP group LOS (P < 0.001), ICU admission rate (P = 0.046), anion gap (P < 0.001), red blood cell (P = 0.002), hemoglobin (P < 0.001), hematocrit (P = 0.002), serum triglyceride (P < 0.001), serum cholesterol (P < 0.001), serum amylase (P = 0.004), random glucose (P = 0.028), plasma fibrinogen (P < 0.001), glycosylated hemoglobin [HbA1c (%); P = 0.008] higher than the DKA group, pH (P < 0.001), carbon dioxide combining power (CO2CP; P < 0.001), ionized calcium (Ca2+; P = 0.022), ionized sodium (Na+; P = 0.001), and correction Na (P = 0.034) lower than the DKA group. Multivariate analysis showed that low pH (P < 0.05), hypertriglyceridemia (P = 0.001), and hypercholesterolemia (P = 0.01) were risk factors for DKA combined with AP. ROC curve analysis showed that the three cut-off value: serum triglycerides of 10.52 mmol/L, serum cholesterol of 9.03 mmol/L, and pH of 7.214. Serum triglyceride has the largest area under the curve (0.93). Under this cut-off value, the sensitivity (80%) and specificity of serum triglyceride, the degree (93.7%) is the highest, while the positive predictive value (62.0%) and negative predictive value (94.7%) of serum cholesterol are the highest.ConclusionsA severe episode of DKA with significant acidosis and hyperlipidemia is more likely to be linked with AP. The frequently used critical illness score is ineffective in determining the severity of the condition. When the serum triglyceride cut-off value is 10.52mmol/L, it has a higher predicted value for AP in DKA.

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Whole exome sequencing identifies three novel gene mutations in patients with the triad of diabetic ketoacidosis, hypertriglyceridemia, and acute pancreatitis

Cited by 11 publications

References 40 publications

Relação entre pancreatite aguda e emergências diabéticas: uma revisão de literatura

Relação entre pancreatite aguda e emergências diabéticas: uma revisão de literatura

Diabetic Ketoacidosis and Hypertriglyceridemia-induced Pancreatitis: Can the Perfect Storm Happen Twice?

Diabetic Ketoacidosis With Acute Pancreatitis in Patients With Type 2 Diabetes in the Emergency Department: A Retrospective Study

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