02 February 2021
: Case report
Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland
Challenging differential diagnosis, Unusual or unexpected effect of treatment, Diagnostic / therapeutic accidents, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis)
Rafał Motyka1ABCDEF, Marcin Kołbuc2ABCDEF*, Wojciech Wierzchołowski3BCD, Bodo B. Beck4CDE, Iwona Ewa Towpik5BCD, Marcin Zaniew6ABCDEFGDOI: 10.12659/AJCR.928994
Am J Case Rep 2021; 22:e928994
Table 1. Summary of clinical and laboratory data.
Clinical characteristics | Case 1 Family 1 | Case 2 Family 2 | Case 3 Family 3 | Case 4 Family 1 | |
---|---|---|---|---|---|
Sex | Male | Male | Male | Male | |
Age of clinical diagnosis (years) | 13 | 33 | 34 | 35 | |
Genotype | c.742C>T; p.Q248 | 17q12 deletion | c.1046-15T>A | c.742C>T; p.Q248 | |
Renal phenotype | C | d | C | C | |
Extra-renal phenotype (during observation) | |||||
Pancreas anomaly | Y | Y | Y | N/A | |
Elevated liver enzymes | N | Y | N | Y | |
Hypomagnesemia | Y | Y | Y | N | |
Hyperuricemia | Y | N/A | Y | Y | |
At diagnosis | sMg | N/A | N/A | N/A | |
sUA | N/A | 6.1 | N/A | ||
eGFR | 187 | 97 | |||
HbA1c | 5.91 | 20.7 | |||
Fasting insulin level | N/A | N/A | N/A | ||
Fasting C-peptide | 1.41 | 1.43 | |||
Autoantibodies (ICA, GAD, IA2) | Negative | Negative | Negative | GAD, ICA (negative), IA2 (positive) | |
At last follow-up | Age (years) | 22 | – | 36 | 46 |
sMg | 0.71 | ||||
sUA | 5.72 | 6.4 | |||
eGFR | 95 | ||||
FEMg | |||||
HbA1c | 5.9 | ||||
eGFR – estimated glomerular filtration rate (ml/min/1.73 m); FEMg – fractional excretion of Mg; HbA1c – glycated haemoglobin (%); m, maternal; N/A – not available; p – paternal; sMg – serum magnesium (mmol/l); sUA – serum uric acid (mg/dl); ICA – islet cel autoantibodies; GAD – glutamic acid decarboxylase autoantibodies; IA2 – insulinoma-associated autoantibodies. Laboratory abnormalities are in bold. Hypomagnesemia was considered when sMg 7 mg/dl or when on allopurinol. Reference values: C-peptide: 1.1–4.4 ng/ml; eGFR >90 ml/min/1.73 m; HbA1c * C bilateral cysts; d unilateral dysplasia+contralateral cysts; ** on allopurinol. |