CAN YOU DIAGNOSE THIS CASE?

BRIEF CASE HISTORY

A 12-year-old girl presents with a short history of polyuria, polydipsia and weight loss. There is no past medical history of note, but there is a strong family history of diabetes on her father’s side. She is clinically well and not dehydrated. Her height is 148 cm (50th centile) and weight 35 kg (25th centile). Her blood pressure is within normal limits for her age. Initial investigations are as follows.

Random blood glucose        24.2 mmol/l (435.6mg/dL)

Venous blood gas                pH 7.34

Base excess                        0.2

Bicarbonate                        25.3 mmol/l

pCO2                                  6.0 kPa (45 mmHg)

Electrolytes Sodium            137 mmol/l

Potassium                           3.9 mmol/l

Urea                                   3.5 mmol/l (21 mg/dL)

Creatinine                           54 mmol/l (0.6mg/dL)

HbA1C                                14.1%

Urinalysis Glycosuria, no ketonuria

Islet cell antibodies            Negative

(a) What is the most likely diagnosis?

                       Type 2 diabetes

                       Diabetes insipidus

                       Type 1 diabetes

                       Maturity onset diabetes of the young (MODY)

(b) What would be the most useful test to establish the

diagnosis?

                      Oral glucose-tolerance test

                      Water-deprivation test

                      Molecular genetic analysis

                     Glutamic acid decarboxylase (GAD) antibodies

(c) What would be the most appropriate treatment at presentation in this girl?

                     Oral hypoglycaemic drug

                     Diet modification

                     Intravenous insulin and intravenous fluids

                     Subcutaneous insulin

                     None of above

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