Cargando…

Acute Recurrent Pancreatitis in a Child With INS-Related Monogenic Diabetes and a Heterozygous Pathogenic CFTR Mutation

Given the close anatomical and physiological links between the exocrine and endocrine pancreas, diseases of 1 compartment often affect the other through mechanisms that remain poorly understood. Pancreatitis has been associated with both type 1 and type 2 diabetes, but its association with monogenic...

Descripción completa

Detalles Bibliográficos
Autores principales:	Son, Rachel G, Kandasamy, Balamurugan, Bowden, Tiana, Azzam, Ruba K, Oakes, Scott A, Philipson, Louis H, Greeley, Siri Atma W
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9836200/ https://www.ncbi.nlm.nih.gov/pubmed/36655002 http://dx.doi.org/10.1210/jendso/bvac182

Ejemplares similares

SUN-143 Does a Monogenic Diabetes Diagnosis Impact Quality of Life?
por: Harris, Anastasia, et al.
Publicado: (2019)

Insight on Diagnosis and Treatment From Over a Decade of Research Through the University of Chicago Monogenic Diabetes Registry
por: Bowden, Tiana L., et al.
Publicado: (2021)

Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. Reflections From a Diabetes Care Editors’ Expert Forum
por: Riddle, Matthew C., et al.
Publicado: (2020)

Early Intensive Insulin Use May Preserve β-Cell Function in Neonatal Diabetes Due to Mutations in the Proinsulin Gene
por: Letourneau, Lisa R., et al.
Publicado: (2017)

Successful Transition From Insulin to Sulfonylurea Therapy in a Patient With Monogenic Neonatal Diabetes Owing to a KCNJ11 P333L Mutation
por: Philla, Katherine Q., et al.
Publicado: (2013)

Genetics and pathophysiology of neonatal diabetes mellitus
por: Naylor, Rochelle N, et al.
Publicado: (2011)

SAT-129 Examining the Role of Genetic Testing in Early Onset Diabetes Occurring After 6 Months of Age
por: McCauley, Mary, et al.
Publicado: (2019)

Successful Transition From Insulin to Sulfonylurea Therapy in a Patient With Monogenic Neonatal Diabetes Owing to a KCNJ11 P333L Mutation. Diabetes Care 2013;36:e201
por: Philla, Katherine Q., et al.
Publicado: (2014)

ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents
por: Greeley, Siri Atma W., et al.
Publicado: (2022)

SAT083 Comparing Grit, Anxiety, And Social Responsiveness In KCNJ11-NDM And Their Sibling Controls
por: Desai, Jui, et al.
Publicado: (2023)

Insulin Deficiency From Insulin Gene Mutation Leads to Smaller Pancreas
por: Wright, Jordan J., et al.
Publicado: (2023)

Tooth Discoloration in Patients With Neonatal Diabetes After Transfer Onto Glibenclamide: A previously unreported side effect
por: Kumaraguru, Janani, et al.
Publicado: (2009)

Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes
por: Dalgin, Gokhan, et al.
Publicado: (2021)

LBODP084 Bilateral Cataracts In A 15-year-old Girl With New-onset Type 1 Diabetes Mellitus
por: Gunaratne, Naiomi C, et al.
Publicado: (2022)

Diabetes Presentation in Infancy: High Risk of Diabetic Ketoacidosis
por: Letourneau, Lisa R., et al.
Publicado: (2017)

Iatrogenic Hyperinsulinemia, Not Hyperglycemia, Drives Insulin Resistance in Type 1 Diabetes as Revealed by Comparison With GCK-MODY (MODY2)
por: Gregory, Justin M., et al.
Publicado: (2019)

The Cost-Effectiveness of Personalized Genetic Medicine: The case of genetic testing in neonatal diabetes
por: Greeley, Siri Atma W., et al.
Publicado: (2011)

Cost-Effectiveness of MODY Genetic Testing: Translating Genomic Advances Into Practical Health Applications
por: Naylor, Rochelle N., et al.
Publicado: (2014)

Systematic Review of Treatment of Beta-Cell Monogenic Diabetes
por: Naylor, Rochelle N., et al.
Publicado: (2023)

SAT-266 A Retrospective Study Investigating the Association Between ADHD and Glycemic Control in Children and Adolescents with Type 1 Diabetes Mellitus
por: Kolluri, Harini, et al.
Publicado: (2019)

L138ins Variant of the CFTR Gene in Russian Infertile Men
por: Chernykh, Vyacheslav, et al.
Publicado: (2023)

Permanent neonatal diabetes due to a heterozygous INS mutation
por: Long, Kha Chin, et al.
Publicado: (2015)

Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees
por: Yang, Bin, et al.
Publicado: (2018)

Inheritance of Mildly Activating ABCC8 Mutation From a Mother With MODY Causes Permanent Neonatal Diabetes Mellitus (NDM) in Two Siblings Who Also Carry a Second Inactivating Mutation: Genetic Testing Allows for Improved Treatment With Sulfonylureas (SU)
por: Salguero Bermonth, Maria Victoria, et al.
Publicado: (2021)

Visuomotor Performance in KCNJ11-Related Neonatal Diabetes Is Impaired in Children With DEND-Associated Mutations and May Be Improved by Early Treatment With Sulfonylureas
por: Shah, Reshma P., et al.
Publicado: (2012)

Role of Noninsulin Therapies Alone or in Combination in Chromosome 6q24-Related Transient Neonatal Diabetes: Sulfonylurea Improves but Does Not Always Normalize Insulin Secretion
por: Carmody, David, et al.
Publicado: (2015)

The "Goldilocks Effect" in Cystic Fibrosis: identification of a lung phenotype in the cftr knockout and heterozygous mouse
por: Craig Cohen, J, et al.
Publicado: (2004)

Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis
por: Shao, Hongxia, et al.
Publicado: (2020)

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure
por: Vanninen, Sari U. M., et al.
Publicado: (2018)

Monogenic hypertension
por: Precone, Vincenza, et al.
Publicado: (2019)

Monogenic hyperlipidemias
por: Krasi, Geraldo, et al.
Publicado: (2019)

Case Report: Japanese Siblings of Cystic Fibrosis With a Novel Large Heterozygous Deletion in the CFTR Gene
por: Kawase, Mayumi, et al.
Publicado: (2022)

Monogenic diabetes due to an INSR mutation in a child with severe insulin resistance
por: Sanderson, Elaine E, et al.
Publicado: (2021)

Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO
por: Salguero, Maria V, et al.
Publicado: (2022)

Identification and selection of healthy spermatozoa in heterozygous carriers of the Phe508del-variant of the CFTR-gene in assisted reproduction
por: De Geyter, Julie, et al.
Publicado: (2022)

Monogenic Causes of Strokes
por: Chojdak-Łukasiewicz, Justyna, et al.
Publicado: (2021)

When Monogenic Isn’t Monogenic—Unravelling the Oligogenic Architecture of the Developmental and Epileptic Encephalopathies
por: Scheffer, Ingrid E., et al.
Publicado: (2019)

Characterization of mice expressing Ins1 gene promoter driven CreERT recombinase for conditional gene deletion in pancreatic β-cells
por: Tamarina, Natalia A, et al.
Publicado: (2014)

Monogenic Diabetes in a Child with Cystic Fibrosis: A Case Report and Review of the Literature
por: Scully, Kevin J, et al.
Publicado: (2020)

CFTR mutations altering CFTR fragmentation
por: Tosoni, Kendra, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_f4j4o7vi0ttiaek8tu093n7aqt