Transient and Permanent Neonatal Diabetes Mellitus
The National Institutes of Health’s Genetic and Rare Diseases Information Center offers comprehensive guides for both forms of this disorder, each of which includes links to a technical explanation of the genetic mutations underlying each, information on clinical research and laboratories that offer genetic testing, past conferences that covered both disorders, and support groups.
Permanent - http://hcp.lv/gp4uNe
Transient - http://hcp.lv/hXw1Kc
GeneReviews: Transient and Permanent Neonatal Diabetes Mellitus
These very in-depth guides provide a summary that discusses diagnosis (clinical diagnosis, testing, molecular genetic testing, testing strategy, and genetically-related disorders); clinical description (natural history, genotype-phenotype correlations, penetrance, anticipation, prevalence); differential diagnosis; management (evaluations following initial diagnosis, treatment of manifestations, prevention of secondary complications, surveillance, testing of relatives at risk, therapies under investigation); and genetic counseling (mode of inheritance, risk to family members, related genetic counseling issues, prenatal testing). Whew.
Permanent - http://hcp.lv/eS84nG
Transient - http://hcp.lv/h35A9e
MODY and Neonatal Monogenic Forms of Diabetes Mellitus
The Medical College of Wisconsin houses this slide presentation, created by Mark Sperling, MD, professor, Department of Pediatrics, Division of Endocrinology, Children’s Hospital of Pittsburgh of UPMC, for the Wisconsin Diabetes Symposium, held in Milwaukee on May 28, 2009. Over the course of 64 slides, Sperling educates viewers on distinguishing between type 1, type 2, and monogenic forms of the disease; appreciating “the diagnostic, therapeutic and prognostic significance of establishing the correct molecular basis of monogenic forms of diabetes;” and understanding “the contribution of genetic defects to the global burden of diabetes mellitus.”
//The Educated PatientTM
KovlerDiabetes CenterNeonatal Registry
Sponsored by the Juvenile Diabetes Research Foundation and developed by the University of Chicago, the Neonatal Diabetes Registry is the first of its kind in the United States and was created with the hope that registrants would help further knowledge of how many “number of people who have neonatal diabetes mellitus, how and why it happens, and how best to treat it.” The center is looking for anyone diagnosed under the age of 12 months to consider participating.
This site is a good resource for patients who have never heard of NDM or other forms of monogenic diabetes. In bare bones fashion, it explains what monogenic diabetes is, who should be tested and how, treatment strategies, and the Juvenile Diabetes Resource Foundation’s role in building awareness and supporting research, before directing you to more comprehensive external resources.
Diagnostic Education: Neonatal Diabetes Mellitus
Athena Diagnostic, one of the primary diagnostic testing services responsible for identifying cases of monogenic diabetes, can help parents make sense of both the testing process and the reasoning behind each procedure. Despite their best efforts, the explanation is still jargon-y and could be difficult for some to understand without assistance.
Culturally Competent Care for Hispanics with Diabetes
Expiration Date: December 31, 2010
It is important to deliver culturally competent care in all patient encounters, but when dealing with the rarity that is diabetes in newborns, the need is amplified. Lorenda Drago, MS, RD, CDN, CDE, Director of the Women, Infants and Children Supplemental Nutrition Program and Ambulatory Care Nutrition Programs at Lincoln Hospital in Bronx, NY will help you better understand how to define cultural competency and identify key aspects of the Hispanic culture that will improve care delivery in this demographic.
Breaking through Neonatal Diabetes
In this video, produced by the Wellcome Trust, Andrew T. Hattersley, DM, MA, BMBCh, FRCP, Professor of Molecular Medicine, Peninsula Medical School, and Frances Ashcroft FRS, GlaxoSmithKline Royal Society Research Professor at the University Laboratory of Physiology, Oxford, discuss how they discovered the genetic mutations that cause monogenic forms of diabetes. Interspersed throughout this presentation are interviews with two families who have been affected by NDM and the stories of their diagnosis and eventual initiation of therapy with sulfonylureas.
Congenital Hyperinsulinism and Neonatal Diabetes Mellitus
Journal:Reviews in Endocrine and Metabolic Disorders (September 2010)
Authors: Hussain K
Purpose: This “state of the state update” will provide readers with an “understanding [of] the molecular mechanisms of [congenital hyperinsulinism and NDM]. Understanding the molecular mechanisms of these two disorders has provided fundamental insights into pancreatic beta-cell physiology. This knowledge has also had a significant impact on our clinical approach to patients with these two disorders and fundamentally changed patient management.”
Entities and Frequency of Neonatal Diabetes: Data from the Diabetes Documentation and Quality Management System
Journal: Diabetic Medicine (June 2010)
Authors: Grulich-Henn J, Wagner V, Thon A, et al
Purpose: Researchers used the continuous diabetes data acquisition system for prospective surveillance, “which includes 51,587 patients with onset of diabetes before the age of 18 years” to identify “he entities and the frequency of neonatal diabetes mellitus (NDM) in a large representative database for paediatric diabetes patients in Germany and Austria.”
Results: “Ninety patients were identified, comprising 0.17% of all paediatric cases in the DPV registry…A monogenic basis for NDM was established in 30 subjects…Pancreatic hypoplasia or agenesis was reported in 10 patients and seven subjects were classified as having Type 1 diabetes by their centres.” This was a “higher rate of NDM in Germany than has been reported previously,” leading the authors to conclude that “full molecular genetic testing should be performed in all patients diagnosed before 6 months of age.”
The First Case Report of Sulfonylurea Use in a Woman with Permanent Neonatal Diabetes Mellitus due to KCNJ11 Mutation during a High-Risk Pregnancy
Journal: The Journal of Clinical Endocrinology & Metabolism (August 2010)
Authors: Klupa T, Kozek E, Nowak N, et al
Purpose: “Because the effect of sulfonylureas (SU) on fetal development is uncertain,” a woman with the “R201H Kir6.2 mutation” who became pregnant at the age of 37, “was switched to insulin afterthe pregnancy diagnosis; however, the subsequent glycemic control was unsatisfactory, with episodes of hyper-and hypoglycemia.”
Results: “In the second trimester, the patient was transferred toSU (glibenclamide, 40 mg), which resulted in stabilization ofglycemic control; glycosylated hemoglobin in the third trimesterwas 5.8%. Prenatal genetic testing excluded the Kir6.2 R201Hmutation in the fetus.” After presenting “with hypoglycemia,transient tachypnea of the newborn, and hyperbilirubinemia,” the newborn had an “uneventful” recovery and is now in good health and developing normally.
Permanent Neonatal Diabetes Mellitus — The Importance of Diabetes Differential Diagnosis in Neonates and InfantsJournal: European Journal of Clinical Investigation (November 4, 2010)
Authors: Rubio-Cabezas O, Klupa T, Malecki MPurpose: Because “mutations in about a dozen genes have been linked to the development of Permanent Neonatal Diabetes Mellitus (PDNM)” and “spectacular applications of pharmacogenetics have recently been described” to manage this and other monogenic disease forms, the authors highlight the “great practical importance” of “differential diagnosis of various types and forms of diabetes.”
Results: The identification of genetic mutations “has had a large impact on clinical practice as most carriers of KCNJ11 and ABCC8 gene mutations have been switched from insulin to oral sulphonylureas with an improvement in glycemic control.” Accordingly, the authors recommend that “genetic testing should be advised in all subjects with PNDM as it may influence medical care in subjects with these monogenic forms of early onset diabetes.”