Pulmonary hemorrhage in a case of CD25 deficiency

2014 ◽  
Vol 01 (01) ◽  
pp. 39-43 ◽  
Author(s):  
Nashat Al Sukaiti ◽  
Aisha Al Sinani ◽  
Suad Al Ismaily ◽  
Samiuddin Shaikh ◽  
Safia Al Abrawi
Keyword(s):  
Novel Mutation ◽  
Pulmonary Hemorrhage ◽  
Insulin Dependent Diabetes Mellitus ◽  
Dependent Diabetes Mellitus ◽  
Homozygous Mutation ◽  
Early Presentation ◽  
Insulin Dependent ◽  
Autoimmune Cytopenia ◽  
Lymphocyte Phenotyping

Introduction: Presentation with severe autoimmune manifestations in early infancy is rare, especially when the gut is not involved. Methods: Lymphocyte phenotyping, determination of autoantibodies, and Sanger sequencing were employed to investigate this case. Results: A novel homozygous mutation in CD25 was identified in the patient who presented in the first weeks of life with insulin-dependent diabetes mellitus (IDDM) and subsequently developed autoimmune cytopenia and pulmonary hemorrhage. Conclusion: CD25 deficiency is present in the Gulf (Oman) and cases with early autoimmune manifestations should be tested for this possibility. Statement of novelty: A novel mutation in CD25 leads to an early presentation of IDDM and pulmonary hemorrhage.

Determination of basal tear turnover in insulin-dependent diabetes mellitus patients by fluorophotometry

1991 ◽  
Vol 15 (6) ◽  
pp. 377-382 ◽  
Author(s):  
Th. R. Stolwijk ◽  
J. A. van Best ◽  
H. H. P. J. Lemkes ◽  
R. J. W de Keizer ◽  
J. A. Oosterhuis
Keyword(s):  
Diabetes Mellitus ◽  
Insulin Dependent Diabetes Mellitus ◽  
Insulin Dependent Diabetes ◽  
Dependent Diabetes Mellitus ◽  
Insulin Dependent ◽  
Tear Turnover

scholarly journals Diabetes Mellitus as the Presenting Feature of Friedreich's Ataxia

2017 ◽  
Vol 08 (S 01) ◽  
pp. S117-S119 ◽  
Author(s):  
Meenal Garg ◽  
Shilpa D. Kulkarni ◽  
Krishnakumar N. Shah ◽  
Anaita Udwadia Hegde
Keyword(s):  
Diabetes Mellitus ◽  
Insulin Dependent Diabetes Mellitus ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Dependent Diabetes Mellitus ◽  
Rapid Progression ◽  
Early Presentation ◽  
Increased Risk ◽  
Genetic Mechanisms ◽  
Insulin Dependent

ABSTRACTPatients with Friedreich's ataxia (FA) are at an increased risk of developing diabetes mellitus and glucose intolerance. Diabetes usually develops many years after the initial presentation. We report an 8-year-old girl who initially presented with diabetic ketoacidosis and was treated as a case of insulin-dependent diabetes mellitus. Around a year later, she developed gait problems and ataxia. Cardiac involvement was detected on echocardiography. Genetic testing confirmed the diagnosis of FA. FA should be a diagnostic consideration in children presenting with diabetes and neurological issues, even with early presentation of the former. Early occurrence of diabetes and rapid progression of ataxia in this patient needs a better understanding of underlying genetic mechanisms.

scholarly journals Determination of autoantibodies to pancreatic antigens in patients with type 1 diabetes mellitus and children from risk groups

2000 ◽  
Vol 46 (3) ◽  
pp. 3-7
Author(s):  
N. L. Vartanyan ◽  
A. A. Sominina ◽  
V. V. Zarubaev ◽  
A. S. Stroykova ◽  
I. N. Ostretsova ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Risk Groups ◽  
Insulin Dependent Diabetes Mellitus ◽  
Dependent Diabetes Mellitus ◽  
Healthy Siblings ◽  
Insulin Dependent ◽  
Methodological Aspects ◽  
High Risk Children

Methodological aspects of immunofluorescent detection of autoantibodies to Langerhans' islet /З-cell antigens (ICA), a marker indicating early preclinical insulin-dependent diabetes mellitus (IDDM), have been modified and standardized. The distribution and levels of ICA were evaluated in patients with first diagnosed IDDM and their relatives (risk group) (total 298). In patients with newly diagnosed IDDM, ICA were detected in 83.3% cases. 15.4% clinically healthy siblings of IDDMpatients and 8.3% children one of whose parents was a diabetic were ICA-positive. About 16% children with non-IDDM carbohydrate metabolism disorders were ICA-positive. Hence, immunofluorescent detection of ICA helps detect this IDDM marker; the process is to be monitored in high-risk children and they should be prescribed therapeutic and prophylactic agents preventing the progress of diabetes.

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