Cases question diagnostic criteria for inherited diabetes

Cases question diagnostic criteria for inherited diabetes
Two patients diagnosed with a genetic form of non-insulin-dependent diabetes developed diabetic ketoacidosis years later, even though a history of diabetic ketoacidosis is normally an exclusion criterion for genetic testing, according to two case reports published online April 22 in Diabetes Care.

(HealthDay)—Two patients diagnosed with a genetic form of non-insulin-dependent diabetes developed diabetic ketoacidosis years later, even though a history of diabetic ketoacidosis is normally an exclusion criterion for genetic testing, according to two case reports published online April 22 in Diabetes Care.

Stepanka Pruhova, M.D., Ph.D., from Charles University in Prague and University Hospital Motol, and colleagues describe the cases of two unrelated patients aged 17 and 24 years who developed severe diabetic ketoacidosis several years after being diagnosed with hepatocyte -1A maturity-onset diabetes of the young (HNF1A-MODY). A history of diabetic ketoacidosis is currently an exclusion criterion for genetic testing for MODY, according to the authors.

The researchers note that both patients had poor metabolic control due to noncompliance and missed . Diabetic ketoacidosis in both patients was associated with recurrent vomiting with dehydration and prerenal acute kidney injury. On admission, glycemia, blood pH, and base excess were 97 mmol/L, 6.80, and −33 mmol/L, respectively, for the first patient, and 34 mmol/L, 7.03, and −14 mmol/L, respectively, for the second patient.

"The two demonstrated cases of in poorly controlled HNF1A-MODY may have implications for the need of adequate patient education and for individual assessment of the indication criteria for genetic testing because, although the molecular genetic diagnosis of MODY diabetes has direct implications for patient treatment, most cases of MODY remain misclassified," Pruhova and colleagues conclude.

More information: Abstract
Full Text (subscription or payment may be required)

Related Stories

Diabetic episodes affect kids' memory

date Oct 19, 2009

Children who have had an episode of diabetic ketoacidosis, a common complication of diabetes, may have persistent memory problems, according to a new study from researchers at the UC Davis Center for Mind and Brain.

World diabetes day designed to raise awareness

date Nov 14, 2012

(HealthDay)—Before her 12-year-old daughter was diagnosed with type 1 diabetes a year ago, Michelle Moriarty knew very little about the blood sugar disease other than that there was more than one type of ...

Recommended for you

Adapted diabetes prevention program deemed effective

date Jul 06, 2015

(HealthDay)—An adapted Diabetes Prevention Program (DPP) lifestyle intervention significantly improves cardiovascular disease-related risk factors among participants, according to a study published in the ...

Diabetes drug helps people lose weight: study

date Jul 01, 2015

Liraglutide, an injectable diabetes drug that US regulators approved last year for weight loss, helped obese people lose an average of 18 pounds (eight kilograms), a yearlong study said Wednesday.

User comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.