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02 February 2021: Articles

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 Motyka A , Marcin Kołbuc A* , Wojciech Wierzchołowski B , Bodo B. Beck C , Iwona Ewa Towpik B , Marcin Zaniew A

DOI: 10.12659/AJCR.928994

Am J Case Rep 2021; 22:e928994

Table 1. Summary of clinical and laboratory data.

Clinical characteristicsCase 1 Family 1Case 2 Family 2Case 3 Family 3Case 4 Family 1
Age of clinical diagnosis (years)13333435
Genotypec.742C>T; p.Q24817q12 deletionc.1046-15T>Ac.742C>T; p.Q248
Renal phenotype CdCC
Extra-renal phenotype (during observation)
Pancreas anomalyYYYN/A
Elevated liver enzymesNYNY
At diagnosissMgN/AN/AN/A
Fasting insulin levelN/AN/AN/A
Fasting C-peptide1.411.43
Autoantibodies (ICA, GAD, IA2)NegativeNegativeNegativeGAD, ICA (negative), IA2 (positive)
At last follow-upAge (years)223646
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.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923