The novel mutations reported here could be pathological candidates for PHHI in Japan. They also reveal that SUR1 and Kir6.2 mutations in the Japanese population exhibit heterogeneity and that they occurred at a frequency similar to other genetic populations.
We report the case of a 2-year-old boy who developed a small bowel intussusception during treatment failure of his first episode of nephrotic syndrome. Despite the absence of typical symptoms other than abdominal pain, the intussusception was diagnosed by ultrasonography and computed tomography and successfully reduced by air enema. No pathological lead point was discovered, and no symptoms of Henoch-Schönlein purpura developed later. Intussusception should be considered in the differential diagnosis of abdominal pain in patients with nephrotic syndrome, especially in patients exhibiting prolonged edema. Ultrasonography or computed tomography should be performed, even in the absence of other typical symptoms suggestive of intussusception. We should also bear in mind that the intussusception associated with nephrotic syndrome might occur at regions other than the typical ileocolic region, such as within the small intestine.
157delA is the first reported Japanese PROP1 gene mutation. In Japan, PROP1 abnormality appears to be a less frequent cause of CPHD than does PIT1 abnormality, whereas PROP1 abnormality predominates in CPHD patients of Caucasian and European origin.
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