case_images: PMC9388818_01
case_images: Abdominal ultrasound showed the patient's kidneys. (A) The patient has multiple cysts in the right kidney, the largest cyst (9*6mm). (B) The patient has multiple cysts in the left kidney, the largest cyst (25*19mm).
case_images: fendo-13-917819-g001.jpg
case_images: PMC9388818_01_fendo-13-917819-g001.jpg
case_images: f1
case_images: As shown in  Figure 1 , ultra-sonographic examination of the abdomen revealed multiple cysts in both kidneys, the echogenicity of the liver parenchyma was enlarged, and no obvious abnormality was detected in other organs.
case_images: The Sanger sequencing showed a heterozygous mutation of HNF1B gene in exon 4 (c.826C>T, p.Arg276*) of the patient.
case_images: fendo-13-917819-g002.jpg
case_images: PMC9388818_01_fendo-13-917819-g002.jpg
case_images: f2
case_images: To further establish definitive diagnosis, genomic DNA was isolated from peripheral blood of the patient, and DNA sequence analysis of the HNF1B gene revealed a heterozygous point mutation (c.826C>T) in 4 exon, leading to a nonsense change of amino acids 276, which changed the amino acid position 276 of the encoded protein from Arg to stop codon ( Figure 2 ).