1.Questionnaire Survey for Dialysis Patients about Withdrawal from Dialysis, Palliative Care
Kaichiro TAMBA ; Tetsu AKIMOTO ; Masaki MURAHASHI
Palliative Care Research 2022;17(4):159-163
Dialysis patients’ views on withdrawal from dialysis and palliative care are unclear. We conducted a survey of hemodialysis outpatients in Tochigi prefecture regarding withdrawal from dialysis and palliative care. Among a total of 2170 questionnaires sent, 481 (22.2%) valid responses were obtained. The results showed that 160 (33.3%) answered yes to the question whether they would like to withdraw from dialysis if it becomes too difficult to continue dialysis treatment. Of these, 118 (73.8%) answered they would make that decision by themselves, 107 (22.2%) were currently in some kinds of suffering. In terms of awareness of palliative care, only 60 (12.5%) responded that they knew about palliative care, which was clearly less than in the survey on awareness of palliative care for cancer among the general Japanese population. These results suggested the necessity to promote awareness of palliative care among dialysis patients.
2.A case of Gitelman syndrome: our experience with a patient treated in clinical practice on a local island
Takashi CHINEN ; Eiji SAEKI ; Takayasu MORI ; Eisei SOHARA ; Shinichi UCHIDA ; Tetsu AKIMOTO
Journal of Rural Medicine 2019;14(2):258-262
Background: Gitelman syndrome (GS) is an autosomal recessive salt-losing renal tubulopathy resulting from mutations in the thiazide-sensitive Na-Cl cotransporter (NCC) gene. Notably, lack of awareness regarding GS and difficulty with prompt diagnosis are observed in clinical practice, particularly in rural settings.Case presentation: We report a case of a 48-year-old man with GS who presented to a local clinic on a remote island. Occasional laboratory investigations incidentally revealed a reduced serum potassium level of 2.6 mmol/L. A careful medical interview revealed episodes of intermittent paralysis of the lower extremities and muscular weakness for >30 years. Subsequent laboratory investigations revealed hypomagnesemia, hypocalciuria, and hypokalemic metabolic alkalosis. Based on the patient’s history, clinical presentation, and laboratory investigations, we suspected GS. Genetic testing revealed a rare homozygous in-frame 18 base insertion in the NCC gene that might have resulted from the founder effect, consequent to his topographically isolated circumstances.Conclusion: More case studies similar to our study need to be added to the literature to gain a deeper understanding of the functional consequences of this mutation and to establish optimal management strategies for this condition, particularly in rural clinical settings.