2,8-Dihydroxyadenine urolithiasis associated with partial deficiencies of adenine phosphoribosyltransferase (APRT) has been found only among Japanese families. All Caucasian patients with the same lithiasis are completely deficient in this enzyme. Partially purified APRT from one of the Japanese families with the lithiasis associated with a partial deficiency of APRT had a reduced affinity for 5-phosphoribosyl-1-pyrophosphate (PRPP). In the present investigations, we have shown that this characteristic is common in mutant enzymes from all the four separate Japanese urolithiasis families associated with partial APRT deficiencies so far tested. The mutant enzymes also had several other characteristics in common including increased resistance to heat in the absence of PRPP and reduced sensitivity to the stabilizing effect of PRPP. These data suggest that these families have a common mutant allele (APRT*J) at the APRT gene locus.

The cytogenetic and morphologic characteristics of a case with a primitive neuroectodermal tumor (PNET) arising from the left kidney in a 22 year old man are presented. The patient was detected as having a left renal mass with a tumor embolus in the inferior vena cava and multiple pulmonary metastases. A radical nephrectomy with tumor embolectomy of the inferior vena cava, along with a resection of the pulmonary nodules were performed. Histologic examination revealed a dense proliferation of small round cells with many Homer-Wright type rosettes and perivascular pseudorosettes. Immunohistochemically, the tumor cells stained strongly positive for HBA71(p30/32MIC2), a surface glycoprotein specific to PNET and Ewing's sarcoma. In addition, the tumor cells expressed several neural markers (neuron specific enolase, neurofilament, synaptophysin, and Leu-7) and vimentin, while the epithelial, muscular, and lymphocytic markers were negative in the tumor cells. Cytogenetic analysis of cultured tumor cells showed a reciprocal translocation t(11;22)(q24;q12) that is considered to be specific to PNET and Ewing's sarcoma. In conclusion, this case suggested that a karyotyping analysis is a useful diagnostic tool for renal PNET, and it may therefore be utilized to help distinguish between difficult cases of small round cell tumors and Wilms' tumor of the kidney.

New procedures for tubeless cutaneous ureterostomy are described. The fundamental principles of the methods are 1) an everted ureteral nipple formation combined with a triangular skin flap as a permanent stoma and 2) a 2-stage operation to obtain a viable ureteral nipple against slough and retraction.

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Glomerular damage due to either reflux nephropathy or dysplasia may cause proteinuria. Proteinuria of 100 mg/day was significantly (p < 0.01) associated with 2 SD of glomerular hypertrophy on histology and clinical observation (suggesting hyperfiltration). Thereafter, a rapid increase in proteinuria followed by diastolic hypertension appears be significant for predicting ESRD.