PMC8554068_01
Contrast abdominal CT showed the pancreatic head [(A), red arrow] with the absence of the pancreatic body and tail. Renal cortical cysts on bilateral kidneys were pointed out with blue arrows (B). The gene sequencing showed a heterozygous mutation of HNF1B gene in exon 2 (c.513G>A) of the patient (C) and his father (D). The sequencing of his mother was wild-type (E).
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A 21-year-old Chinese man was hospitalized in August 2019 due to the symptoms of thirst, polydipsia and fatigue ( Figure S1 ). To identify the cause of abnormal liver function, the abdominal contrast computer tomography (CT) was performed and the result revealed a regular biliary tree, agenesis of the pancreatic body and tail with a normal pancreatic head ( Figure 1A ), and multiple renal cortical cysts in bilateral kidneys ( Figure 1B ). ABI, 3730xl, USA). A heterozygous variant of c.513G>A-p.W171X in exon 2 of HNF1B gene was found in this patient ( Figure 1C ), which was further verified by first generation DNA sequencing. Importantly, his father also showed a heterozygous variant in HNF1B gene ( Figure 1D ), while his mother showed a wild-type genotype ( Figure 1E ). The most recent return visit was performed on May 9th, 2021 ( Figure S1 ).