case_images: PMC10878990_01
case_images: As observed in the color ultrasound images: Picture 1 shows a normal liver morphology, characterized by homogeneous parenchymal echogenicity and the absence of occupying lesions. In Picture 2, the gallbladder appears normal in size, with several slightly echogenic attachments on the wall, the largest measuring approximately 0.5 cm. No abnormal echoes are detected within the cystic cavity. Picture 3 reveals a strong echogenic mass of about 0.5 cm in the lower pole of the right kidney, with no distinct hypoechoic areas in the collecting system. Moving to Picture 4, the anteroposterior diameter of the prostate is approximately 5.3 cm, protruding into the bladder by about 1.8 cm, and displaying heterogeneous parenchymal echogenicity.
case_images: fmed-11-1218232-g002.jpg
case_images: PMC10878990_01_fmed-11-1218232-g002.jpg
case_images: fig2
case_images: Color ultrasound of the urinary system: a hyperechoic lesion approximately 0.5 cm in size was found in the middle and lower calyces of the right kidney (Figure 2).
case_images: Heterozygous mutation at nucleotide 674 from cytosine C to guanine G(c.674C > G) is found in proband, proband's son, proband's two daughters, and proband's grandson(e). The rest of the proband's families have no variation at the SLC22A12 gene.
case_images: fmed-11-1218232-g003.jpg
case_images: PMC10878990_01_fmed-11-1218232-g003.jpg
case_images: fig3
case_images: Three children (b, c, and d) and one grandson (e) of this patient also had a heterozygous mutation at nucleotide 269 (Figure 3).
case_images: Heterozygous mutation at nucleotide 674 from cytosine C to guanine G(c.674C > G) is found in proband, but all of his offspring have no variation in the SLC22A12 gene.
case_images: fmed-11-1218232-g004.jpg
case_images: PMC10878990_01_fmed-11-1218232-g004.jpg
case_images: fig4
case_images: According to ACMG guidelines, this mutation was preliminary classified as having unknown clinical significance, and all of his family members had no heterozygous mutation at this site (Figure 4).
case_images: Pedigrees of families with renal hypouricemia and SLC2A12 mutations. Solid symbols denote affected family members, white symbols square healthy members and unexamined family members, and white symbols with a solid circle inside denote heterozygous.
case_images: fmed-11-1218232-g005.jpg
case_images: PMC10878990_01_fmed-11-1218232-g005.jpg
case_images: fig5
case_images: The pedigree of this whole family c.269G > A mutation in the SLC2A12 was depicted (Figure 5).