PMC9388818_01
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).
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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.
The Sanger sequencing showed a heterozygous mutation of HNF1B gene in exon 4 (c.826C>T, p.Arg276*) of the patient.
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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 ).