case_images: PMC10682700_01
case_images: Line chart of serum C-peptide levels. The fasting serum C-peptide level fluctuated between 0.34-1.15 ng/ml (1.1-4.4 ng/ml) and 0.39-2.02 ng/ml for 2 hours after breakfast. There was islet beta cell dysfunction but no absolute deficiency of serum C-peptide levels in this patient, which did not conform to the characteristics of T1DM. It is generally believed that C-peptide levels below 200 pmol/L (0.1 ng/ml) after stimulation indicate poor pancreatic function and that C-peptide levels below 600 pmol/L (0.2 ng/ml) after stimulation indicate that the islet function is damaged, which should alert to the possibility of T1DM or monogenic diabetes. T1DM, type 1 diabetes mellitus.
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case_images: The arterial blood gas analysis was as follows: pH 7.46 (7.35-7.45), PaO2 81 mmHg (80-100 mmHg), PaCO2 48 mmHg (35-45 mmHg), HCO3 - 35.0 mmol/L (22-27 mmol/L), BE-b 10.5 mmol/L (-3.0 to 3.0 mmol/L), venous serum potassium ion 3.5 mmol/L (3.5-5.5 mmol/L), sodium ion 134 mmol/L (137-147 mmol/L), chloride ion 93 mmol/L (99-110 mmol/L), glycosylated haemoglobin 11.2% (4.0%-6.0%), and fasting serum C-peptide level fluctuated between 0.34-1.15 ng/ml (1.1-4.4 ng/ml) and 0.39-2.02 ng/ml 2 hours after breakfast ( Figure 1 ).
case_images: (A) Enhanced CT abdomen showing the result of dorsal pancreatic agenesis (as indicated by the red arrows; considering pancreatic developmental variation), an exceedingly rare congenital disease reported in the literature. (B) Enhanced CT abdomen showing the result of multiple complex renal cysts (as indicated by the red arrows).
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case_images: f2
case_images: The enhanced CT scan of the abdomen showed agenesis of the dorsal pancreas (ADP) (considering pancreatic developmental variation), complex cysts of both kidneys, and small stones in the right kidney ( Figure 2 ).
case_images: Results of whole-exon gene variation. The patient was suspected to have a heterozygous deletion mutation at chr17:34842526-36347106 (1.5 Mb) that included 24 genes in total: AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HMGB1P24, HNF1B, LHX1, LHX1-DT, MIR2909, MIR378J, MRM1, MYO19, PIGW, RNA5SP439, RNU6-489P, SYNRG, TADA2A, TBC1D3K, TBC1D3L, YWHAEP7, and ZNHIT3.
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case_images: f3
case_images: TADA2A, TBC1D3K, TBC1D3L, YWHAEP7, and ZNHIT3 ( Figure 3 ). This region contained the complete 17q12 recurrent region (including HNF1B gene), which is not enough to cause a disease with the confirmed single dose.