PMC3482064_01
Findings of renal ultrasound from the patient, his elder brother and their father.
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F1
Renal ultrasonography showed normal appearance, which denies the possibility of medullary cystic kidney disease type 2 and glomerulocystic disease (fig. 1). Renal ultrasonography in the elder brother revealed relatively atrophic kidneys (longitudinal image; 8.2 and 8.8 cm in major axis of right and left kidney; fig. 1) without cystic lesions. Their father's kidney was hardly visible in ultrasound due to atrophy with some acquired cysts in end-stage renal disease (fig. 1).
A mutation analysis was carried out on a healthy volunteer. UMOD gene mutation analysis in the patient with FJHN showed a heterozygous mutation in exon 4 of the UMOD gene (c.688 T>C), which led to the p.Trp 230Arg mutation. Reverse sequencing further confirmed the mutation. The patient's elder brother possessed the same mutation, as did their father.
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F2
As shown in fig. 2, the analysis revealed a rare heterozygous missense mutation (c.688 T>C, pTrp 230Arg) in exon 4 that altered evolutionary conserved residues in the gene encoding UMOD.