Atypical Diabetes

Boris Draznin

Boris Draznin
Atypical Diabetes [EPUB ebook]
Pathophysiology, Clinical Presentations, and Treatment Options

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Although the vast majority of diabetes cases (type 1 and type 2) are polygenic diseases, research, funded by the American Diabetes Association, has found that some forms of diabetes, distinct from type 1 or type 2 diabetes, are caused by single gene mutations. It has been estimated that these monogenic forms of diabetes account for up to five percent of all diabetes cases. In addition to monogenic diabetes, there are other atypical causes of diabetes, including: genetic defects in insulin action; diseases of the exocrine pancreas; and endocrinopathies.

Given recent advances in our understanding of sub-types of diabetes, the time has come for a book on how to correctly diagnose and treat patients with atypical forms of this disorder. The book will be divided into three parts, each exploring distinct categories of atypical diabetes.

Part I: Monogenic Diabetes: Genetic Defects of β-cell development and function; Part II: Insulin resistance, genetic defects in insulin action, and diseases of exocrine pancreas; Part III: Endocrinopathies, Immune-mediated diabetes, Diabetes of Unknown cause, and Other genetic syndromes sometimes associated with diabetes.

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Inhaltsverzeichnis

Table of Contents

Preface xiii

Introduction xv

PART I: Monogenic Diabetes: Genetic Defects of β-cell Development and Function

Chapter 1: Maturity-Onset Diabetes of the Young (MODY) and Neonatal Diabetes — 3
R. Naylor, S.A. Greeley, D. Carmody, J.L. Hwang, M. Sanyoura, L.R. Letourneau, G.I. Bell, and L. Philipson

Part I Case Studies Introduction — 37

Case 1: KCNJ11 – DEND: Neonatal Diabetes — 41
L. Letourneau, M. Sanyoura, L. Dickens, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson

Case 2: ABCC8 Neonatal Diabetes — 44
L. Letourneau, M. Sanyoura, L. Dickens, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson

Case 3: INS – Insulin Gene Mutation in Neonatal Diabetes — 47
L. Letourneau, M. Sanyoura, L. Dickens, S.A. Greeley, R. Naylor, GI. Bell, and L. Philipson

Case 4: STAT3 and Neonatal Diabetes — 51
D.W. Hansen, J.C. Sanchez, and T.S. Hannon

Case 5: GATA6 – Heart and Pancreas — 55
T. Triolo and K. Simmons

Case 6: KCNJ11 R201C – Neonatal Diabetes — 61
L.M. Nally and D.M. Wilson

Case 7: PDX1 – Pancreatic Agenesis — 67
M. Sanyoura, L. Letourneau, L. Dickens, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson

Case 8: Neonatal Diabetes and Congenital Hypothyroidism: GLIS3 — 70
M. Sanyoura, L. Letourneau, L. Dickens, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson

Case 9: EIF2AK3: Wolcott-Rallison Syndrome — 73
M. Sanyoura, L. Letourneau, L. Dickens, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson

Case 10: Transient Neonatal Diabetes — 76
E.O. Buschur and K. Dungan

Case 11: GCK-MODY — 81
L. Dickens, M. Sanyoura, L. Letourneau, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson

Case 12: HNF1A – MODY — 84
L. Dickens, M. Sanyoura, L. Letourneau, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson

Case 13: HNF4A – MODY — 87
L. Dickens, M. Sanyoura, L. Letourneau, S.A. Greeley, R. Naylor, G.I. Bell, and L. Philipson

Case 14: MODY as a Possible Diagnosis — 90
I. Jamil and J.L. Gilden

Case 15: Could This Be MODY vs. Type 2? — 95
B.Z. Osmani, J.L. Gilden, A. Moid, and C. Harris

Case 16: Misclassification of MODY 3 as Type 1 — 100
L. Song, J.N. Mc Nulty, and I. Lingvay

Case 17: Wolfram Syndrome WFS1 — 105
J. Sarhis-Avigdor and E. Cengi

Case 18: Mitochondrial Diabetes — 109
C. Sullivan and S. Alexanian

Case 19: Mitochondrial Diabetes: m.3243A>G Mutation — 115
B.P. Galm, S. Sirrs, and R.O. Yeung

Case 20: m DNA3243A>G 120
A.L. Frederilsen and H. Beck-Nielsen

Case 21: Maternally Inherited Diabetes and Deafness: 23-Year Follow-Up — 125
I. Ahmad and I.B. Hirsch

Case 22: Glycogen Storage Type 1A Presenting with Diabetes Mellitus Type 2 — 130
D. Sistla, M. Korytkowski, S. Mon

PART II: Insulin Resistance, Genetic Defects in Insulin Action, and Diseases of Exocrine Pancreas

Chapter 2: Insulin Resistance: Molecular Biology and Pathophysiology — 135
C.L. Wang and B. Draznin

Chapter 3: The Lipodystrophy Syndromes: Clinical Features and Treatments — 155
M. Mattingly, A. Valencia, E. Cochran, R.J. Brown, and P. Gorden

Chapter 4: Diabetes in Diseases of Exocrine Pancreas — 181
J. Abramowitz, U. Gunasekaran, X.F. Samaropoulos, A. Tumyan, and I. Lingvay

Part II Case Studies Introduction — 215

Case 23: Type A Insulin Resistance — 218
A. Stears and R.K. Semple

Case 24: Donohue Syndrome (Leprechaunism) — 225
C. Peters and R.K. Semple

Case 25: Rabson-Mendelhall Syndrome — 232
R. Williams and R.K. Semple

Case 26: Familial Partial Lipodystrophy II (Dunninan’s Syndrome) — 239
P.K. Cabandugama, S.A. Brietzke, M.J. Gardner, and J. Sowers

Case 27: Familial Partial Lipodystrophy — 243
K.E. Kreider and M. Feinglos

Case 28: Severe Insulin Resistance and Lipodystrophy — 248
K. Mekala and J. Aloi

Case 29: Lipodystrophy Due to PPAR-γ Gene Mutation — 253
A. Hodes, R. Brown, E. Cochran, M. Zilbermint

Case 30: Congenital Generalized Lipodystrophy — 259
H. Beck-Nielsen

Case 31: Pancreatogenic Diabetes Mellitus –263
N. Zherdeva and B. Mankovsky

Case 32: A Case of Pancreatogenic Diabetes due to Alcohol Abuse –267
B.Z. Osmani, J.L. Gilden, and A. Moid

Case 33: Post-Pancreatectomy Diabetes — 273
E.D. Buras, R. Cianchandani, and J. Wyckoff

Case 34: Diabetes and Hemochromatosis — 277
D. Maggi, A. Aleo, L. Briatore, C. Mazzucchelli, L. Fontana, and R. Cordera

Case 35: Bronze Diabetes — 281
E. Meyerhoff

Case 36: Type 2 Diabetes in Liver Cirrhosis and Hepatocellular Carcinoma — 285
S. Ravi, A. Moid, J.L. Gilden, and D. Karam

Case 37: Poor Glycemic Control in Insulin-Treated Diabetes Due to Anti-Insulin Antibodies — 290
D. S. Church and R.K. Semple

Case 38: Cystic Fibrosis-Related Diabetes — 296
R. Iyengar, R.Y. Gianchandani, and J. Wyckoff

Case 39: Pembrolizumab and Diabetic Ketoacidosis — 300
F. Cottini and K. Dungan

Case 40: Glycemic Control in Patient with Multiple Chronic Complications — 305
A. Iqbal, J.L. Gilden, B.G. Theckadeth, S. Rapaka, and D. Dai

Case 41: Diabetes and Exposure to Agent Orange — 309
B.Z. Osmani, J.L. Gilden, C. Harris

Case 42: Pasireotride-Induced Hyperglycemia — 313
K. Brau and A. Drincic

Case 43: Hemoglobin A1C vs. Fructosamine — 318
A. Iqbal, J.L. Gilden, B.G. Theckadeth, S. Rapaka, and D. Dai

Part III: Endocrinopathies, Immune-Mediated Diabetes, Diabetes of Unknown Cause, and Other Genetic Syndromes Sometimes Associated with Diabetes

Chapter 5: Diabetes Secondary to Endocrinopathies — 325
J. M. Silverstein, K. Sterl, J. L Cartier, P. Cruz-Bravo, C. A. Davis, S. Sadiq, and J.B Mc Gill

Chapter 6. Immune-Mediated Diabetes — 357
M.F. Salam, J.W. Hughes, and J.B. Mc Gill

Chapter 7. Diabetes of Unknown Cause — 383
Y. Azhar, C.A. Baker, and N. Rasouli

Chapter 8. Genetic Syndromes Associated with Diabetes — 395
A.C.H Wood, D. Abreu, A.L. Clark, M.A. Malbas, J.E. Sprague, and J.B. Mc Gill

Part III Case Studies Introduction — 423

Case 44: Acromegaly and Diabetic Ketoacidosis — 426
P. Akkireddy and A. Drincic

Case 45: Cushing’s Syndrome and Diabetes — 431
K. Peicher and L. Meneghini

Über den Autor

Boris Draznin, MD, Ph D, is the Celeste and Jack Grynberg Professor of Medicine and a Director of the Adult Diabetes Program at the University of Colorado School of Medicine. Dr. Draznin is a member of the American Society of Clinical Investigation, Association of American Physicians, American Diabetes Association, American Association of Clinical Endocrinologists, and the Endocrine Society. Dr. Draznin served as Chair, Professional Section Advisory Panel of the American Diabetes Association, and President of the Western Association pf Physicians. He has published over 150 scientific articles and written or edited 27 books, including Diabetes Case Studies and Managing Diabetes and Hyperglycemia in the Hospital Setting, both published by the American Diabetes Association.

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Sprache Englisch ● Format EPUB ● Seiten 560 ● ISBN 9781580406956 ● Dateigröße 4.3 MB ● Alter 85-17 Jahre ● Verlag American Diabetes Association ● Ort Arlington ● Land US ● Erscheinungsjahr 2018 ● herunterladbar 24 Monate ● Währung EUR ● ID 6437193 ● Kopierschutz Adobe DRM

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