Published papers

© 2018 S. Karger AG, Basel. Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal recessive disorders characterized by renal corticomedullary cysts with the extrarenal symptoms. Typically, patients with NPHP-RC reach end-stage kidney disease (ESKD) before the age of 30 years. We herein report a Japanese woman with NPHP-RC who had unusually delayed progression to ESKD after 6 decades. She exhibited liver dysfunction at the age of 23 years. She also showed mild renal dysfunction at the age of 43 years. Ultrasonography revealed bilateral multiple renal cysts with loss of corticomedullary differentiation. Her liver and renal functions gradually deteriorated. She was diagnosed with liver fibrosis as a result of biopsy, and initiated the maintenance hemodiafiltration therapy for ESKD at the age of 61 years. Because of a unique combination of multiple renal cysts and liver fibrosis, ciliopathy was suspected and medical exome analysis was performed. A novel homozygous missense mutation was identified in RPGRIP1L (c.1810G>A p.Glu604Lys), a causative gene for NPHP-RC. To the best of our knowledge, this patient is the oldest one who progressed to ESKD in NPHP-RC. Our case illustrates that NPHP-RC should be included in the differential diagnosis of the patient with corticomedullary polycystic kidneys accompanied by the extrarenal organ involvements, even if the patient is elderly.

© 2017, Japanese Society of Nephrology. Background: The suitable methods evaluating glomerular filtration rate (GFR) have not been established in patients undergoing radical nephrectomy (RN) or radical nephroureterectomy (RNU) due to urological malignancies in Japan as well as worldwide. Methods: We examined the relationship between creatinine clearance-based measured GFR (mGFR) versus estimated GFR (eGFR) calculated by 3 popular equations, 4-variable Modification of Diet in Renal Disease equation adjusted by Japanese correction coefficient (cmMDRD), 3-variable MDRD equation for Japanese population (eGFRcreat), and Chronic Kidney Disease-Epidemiology Collaboration equation adjusted by Japanese correction coefficient (cmCKD-EPI) in Japanese patients who had undergone RN or RNU due to renal cell carcinoma or upper tract urothelial carcinoma before and after surgery. Results: Among the 3 equations examined, eGFRcreat was the closest to mGFR, although each eGFR was significantly higher than mGFR in the pre-operative period. In the post-operative period, cmMDRD and eGFRcreat, but not cmCKD-EPI, were comparable to mGFR. Each of eGFR was significantly correlated with mGFR in both the pre-operative and post-operative periods. Similar results were obtained by the subanalysis of the patients with pre-operative mGFR of < 60 mL/min/1.73 m2. Results of κ statistics also showed that eGFRcreat was most appropriate to estimate GFR both before and after heminephrectomy, when cut-off value of GFR of < 60 mL/min/1.73 m2 was used. Conclusion: Results of the present study suggest that eGFRcreat is likely to be the most appropriate equation for patients undergoing RN or RNU due to urological malignancies. However, more precise equations will be required for accurately estimating GFR.

Background: A newspaper article in August 2016 reported that about 40 medical facilities refused dialysis to a human immunodeficiency virus (HIV) patient. Infection Survey Subcommittee in the Japanese Society for Dialysis Therapy investigated this situation. Methods: An anonymous questionnaire survey about the acceptance of HIV-positive patients was sent to 4039 dialysis institutions. The questionnaire included a number of HIV-positive patients on dialysis currently and in the last 5 years, details on whether the institution received requests to perform dialysis on HIV-positive patients, the responses to these requests, the preparation system for acceptance, the reasons for refusal of dialysis of HIV-positive patients, knowledge of HIV-related guidelines in use, and the considerations for the acceptance of dialysis for HIV-positive patients. We evaluated answers to these questions from the institutions. Results: Two thousand five hundred eighty-Three facilities (64.0%) responded to the survey questions. In the past 5 years, 215 facilities (8.3%) were requested to accept HIV patients for dialysis and 40.1% of these refused acceptance. Although manuals, written policy and procedure, for a needle piercing accident existed in most of the facilities that accepted the patients, many facilities did neither prepare the stocks of anti-HIV drugs nor cooperate with HIV core hospitals. Principal reasons for the refusal were listed as the lack of medical experience with HIV patients, anxiety of healthcare providers with regard to HIV infection risk, lack of stocks of anti-HIV drugs for needle piercing accidents, and the lack of cooperation with HIV core hospitals. The proportion of facilities expected to accept HIV patients in the future was as low as 16.9% among all facilities that responded to the survey. Conclusions: The Japanese Society for Dialysis Therapy will need to strengthen the cooperation with other academic societies and disseminate basic knowledge on HIV and infection control measures to develop and establish the acceptance system of maintenance dialysis for HIV patients.

Accidental hypothermia is defined as a core body temperature <35°C. Even with the use of multiple active rewarming methods, it has a high mortality rate. No standard treatment strategy for moderate or severe hypothermia in the absence of cardiac arrest has yet been established. We herein report three patients with severe or moderate accidental hypothermia who were treated by hemodialysis in the acute phase. This case report with a literature review describes the usefulness of hemodialysis for the treatment of moderate and severe accidental hypothermia without cardiac arrest.

Background: Gastrointestinal stromal tumors (GISTs) in transplant recipients are very rare and only a handful of cases have been reported to date. Here we present the first known case of a huge GIST in a kidney transplant recipient with perforation of small intestine. Case presentation: A 64-year-old male presented at our hospital with right colic pain; he had received an ABO incompatible kidney transplant 6 years earlier and was treated with cyclosporine, mycophenolate mofetil, and methylprednisolone. Radiological evaluation revealed a huge (11 cm in diameter) solitary tumor at the small intestine without distant metastasis. The small intestinal wall at the tumor location was perforated one week after diagnosis and the patient underwent emergency surgery. The pathological findings were compatible with GIST and the tumor consisted of spindle cells with positive staining for KIT, CD34, and DOG1 and negative or weak staining for desmin and S-100 protein. A mutation in exon 11 of the c-kit gene was also detected. Cyclosporine was withdrawn and imatinib mesylate (400 mg daily) was introduced. However, thereafter, we needed to decrease the dose at 300 mg daily due to severe hyponatremia. Reduced imatinib treatment was well tolerated and recurrence was not observed for 18 months after surgery. Conclusions: The occurrence of GISTs in transplant patients is rare, and huge GISTs should be resected immediately after diagnosis because gastrointestinal tract at the tumor site could be perforated. Imatinib treatment is feasible in transplant recipients under immunosuppression, although immunosuppressive drugs metabolized by CYP3A4 should be used at a reduced dosage or withdrawn.

Maintenance hemodialysis (HD) therapy is essential for survival in patients with end-stage renal disease (ESRD); however, HD can also be life-threatening in the final stages of ESRD. Currently, no clear indicators and/or biomarkers exist regarding when HD should be forgone. In the present study, we examined temporal changes in multiple clinical parameters, including biochemical data, physical data, the use of specific medical treatments, nursing care levels, and the activities of daily living (ADL) in 47 ESRD patients who underwent maintenance HD and who died in our hospital. We also investigated the status of informed consents regarding the forgoing of HD in these patients. We found that while biochemical parameters were unaltered, physical parameters such as consciousness levels and blood pressure gradually deteriorated during hospitalization. The use of the following specific medical treatments significantly increased over time: vasopressor use, O inhalation, and ventilator use. The need for 2 nursing care increased and the ADL levels decreased toward the time of death. Medical doctors gave information regarding forgoing HD to patients and/or their family/relatives in 55% of cases, obtained agreement to forego HD in 45% of cases, and HD was actually foregone in 38% of cases. Most clinical parameters were not significantly different between the patients whose HD sessions were forgone versus those in whom HD was continued, indicating that HD was foregone in the very last stages of life. The results suggest that physical parameters, the use of specific medical treatments, the levels of nursing care, and ADL are potential indicators for forgoing HD in the final stages of ESRD.