Compound Heterozygous Mutations of the SBDS Gene in a Patient with Shwachman-Diamond Syndrome, Type 1 Diabetes Mellitus and Osteoporosis

Pancreatology ◽  
2006 ◽  
Vol 6 (6) ◽  
pp. 549-554 ◽  
Author(s):  
Jonas Rosendahl ◽  
Niels Teich ◽  
Joachim Mössner ◽  
Jeanett Edelmann ◽  
Christian A. Koch
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Compound Heterozygous ◽  
Syndrome Type ◽  
Shwachman Diamond Syndrome ◽  
Compound Heterozygous Mutations

Type 1 diabetes mellitus associated with activated phosphatidylinositol 3-kinase delta syndrome, type 2

2018 ◽  
Vol 10 (5) ◽  
pp. 421-422
Author(s):  
Ryuichi Nakagawa ◽  
Kei Takasawa ◽  
Tzu-Wen Yeh ◽  
Kohsuke Imai ◽  
Kenichi Kashimada ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Syndrome Type ◽  
Phosphatidylinositol 3 Kinase ◽  
Phosphatidylinositol 3

scholarly journals Autoimmune Polyglandular Syndrome Type 3 with Anorexia

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Toshio Kahara ◽  
Hitomi Wakakuri ◽  
Juri Takatsuji ◽  
Iori Motoo ◽  
Kosuke R. Shima ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Pernicious Anemia ◽  
Cobalamin Deficiency ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Type 3

A 71-year-old man with diabetes mellitus visited our hospital with complaints of anorexia and weight loss (12 kg/3 months). He had megaloblastic anemia, cobalamin level was low, and autoantibody to intrinsic factor was positive. He was treated with intramuscular cyanocobalamin, and he was able to consume meals. GAD autoantibody and ICA were positive, and he was diagnosed with slowly progressive type 1 diabetes mellitus (SPIDDM). Thyroid autoantibodies were positive. According to these findings, he was diagnosed with autoimmune polyglandular syndrome type 3 with SPIDDM, pernicious anemia, and Hashimoto's thyroiditis. Extended periods of cobalamin deficiency can cause serious complications such as ataxia and dementia, and these complications may not be reversible if replacement therapy with cobalamin is delayed. Although type 1 diabetes mellitus with coexisting pernicious anemia is very rare in Japan, physicians should consider the possibility of pernicious anemia when patients with diabetes mellitus have cryptogenic anorexia with the finding of significant macrocytosis (MCV > 100 fL).

Shwachman-Diamond Syndrome and Type 1 Diabetes Mellitus: More Than a Chance Association?

2011 ◽  
Vol 119 (10) ◽  
pp. 610-612 ◽  
Author(s):  
S. Gana ◽  
L. Sainati ◽  
M. R. Frau ◽  
C. Monciotti ◽  
F. Poli ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Shwachman Diamond Syndrome

Risk factors for return with a second trigger digit

2012 ◽  
Vol 39 (7) ◽  
pp. 704-707 ◽  
Author(s):  
S. Ferree ◽  
V. Neuhaus ◽  
S. J. E. Becker ◽  
J. B. Jupiter ◽  
C. S. Mudgal ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Risk Factors ◽  
Type 1 Diabetes ◽  
Carpal Tunnel Syndrome ◽  
Type 1 Diabetes Mellitus ◽  
Carpal Tunnel ◽  
Syndrome Type ◽  
Tunnel Syndrome

The purpose of this study was to determine predictors of return to the same practice with a second idiopathic trigger digit. A total of 2234 patients with Quinnell grade 2 or greater (objective triggering) of one or more digits were retrospectively analysed. A total of 490 of 2234 (22%) patients returned to the same practice with a second trigger digit, with an average follow-up time of 2.1 years (range, 7 days to 10 years). Predictors of return with a second trigger digit included carpal tunnel syndrome, Type 1 diabetes mellitus and duration of follow-up in years. Patients diagnosed with idiopathic trigger digit can be advised that about one in five will return to the same practice with another trigger digit, with approximately double the risk in patients that have carpal tunnel syndrome or Type 1 diabetes.

scholarly journals A case of type 1 diabetes mellitus in a woman with Shwachman‐Diamond syndrome

2021 ◽  
Vol 38 (6) ◽  
pp. 41-43
Author(s):  
María Miguélez González ◽  
Juan Carlos Percovich Hualpa ◽  
Diego Muñoz Moreno ◽  
Olga González Albarrán
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Shwachman Diamond Syndrome
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