Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone: A Case Report.

Herein, we report a case of Hermansky-Pudlak syndrome (HPS) in which respiratory symptoms improved with pirfenidone treatment. A 43-year-old Japanese woman with oculocutaneous albinism presented with a cough and dyspnea. High-resolution computed tomography revealed areas of reticular and frosted lung opacities. The diagnosis of HPS was confirmed by a prolonged bleeding time and HPS1 gene mutation. Generally, there is no effective treatment for interstitial pneumonia associated with HPS except for lung transplantation. In the present case, the cough and dyspnea improved with pirfenidone administration. Therefore, clinicians should administer pirfenidone in challenging transplantation cases and during the waiting period for transplantation.

Long-term low-dose spironolactone therapy is safe in oligoanuric hemodialysis patients.

The Randomized Aldactone Evaluation Study showed that low-dose spironolactone treatment dramatically reduced mortality in patients with heart failure. However, the clinical use of this drug may be limited due to its tendency to cause life-threatening hyperkalemia in hemodialysis (HD) patients. We assessed whether low-dose spironolactone could be safely administered to HD patients for a long period. The study design comprised 2-month baseline and 6-month treatment periods. Sixty-one oligoanuric HD patients were administered a spironolactone dose of 25 mg/day. Serum potassium levels at baseline were compared with those during the treatment. Eleven patients discontinued the treatment because of adverse events other than hyperkalemia or for other reasons. The remaining 50 patients completed the trial, and none of them showed a potassium level of >6.8 mEq/l or required additional ion exchange resin therapy throughout the study period. The mean potassium levels during the treatment were higher than those at baseline; the differences were statistically significant, but only marginally. The safety of spironolactone should be examined in larger trials. However, from this study, we conclude that long-term low-dose spironolactone treatment is clinically safe for many HD patients. A more extensive treatment may help in determining whether spironolactone can reduce cardiovascular mortality in HD patients.

Spironolactone reduces cardiovascular and cerebrovascular morbidity and mortality in hemodialysis patients.

OBJECTIVES: This study sought to assess whether spironolactone treatment reduces the high incidence of cardiovascular and cerebrovascular (CCV) morbidity and mortality in hemodialysis (HD) patients. BACKGROUND: Aldosterone receptor blockers reduce cardiac-related events, but the efficacy of the agents in HD patients is unclear. METHODS: A 3-year randomized trial involving 5 clinics was performed. Of the 309 oligoanuric HD patients enrolled in the study, 157 patients were randomly assigned to receive 25 mg/day of spironolactone without any restriction on dietary potassium intake (treatment group), and 152 patients were assigned to a control group. The primary outcome was a composite of death from CCV events or hospitalization for CCV events, and the secondary outcome was death from all causes. RESULTS: During the 3-year follow-up, the primary outcome occurred in 5.7% of patients in the treatment group and in 12.5% of patients in the control group. Hazard ratios (HRs) for the primary outcome for treatment were 0.404 (95% confidence interval [CI]: 0.202 to 0.809; p = 0.017) and 0.379 (95% CI: 0.173 to 0.832; p = 0.016) before and after adjustment, respectively. The secondary outcome was significantly reduced in the treatment group compared with the control group (6.4% vs. 19.7%; HRs: 0.355 [95% CI: 0.191 to 0.662; p = 0.002] and 0.335 [95% CI: 0.162 to 0.693; p = 0.003] before and after adjustment, respectively). Gynecomastia or breast pain was reported in 16 patients (10.2%) in the treatment group. Serious hyperkalemia led to treatment discontinuation in 3 patients (1.9%). CONCLUSIONS: Aldosterone receptor blockade using spironolactone may substantially reduce the risk of both CCV morbidity and death among HD patients; however, larger-scale studies are recommended to further confirm its efficacy. (Effects of Spironolactone on Cardio- and Cerebrovascular Morbidity and Mortality in Hemodialysis Patients; NCT01687699).