Dual diagnosis of autosomal dominant polycystic kidney disease and sickle cell disease in a teenage male.

BACKGROUND: Sickle cell disease (SCD) and autosomal dominant polycystic kidney disease (ADPKD) are relatively common genetic conditions with considerable overlap in clinical presentation. In addition to similarities between the signs and symptoms in sickle cell nephropathy and ADPKD, more than half of SCD patients have kidney cysts. The co-occurrence of these two diseases has not been previously reported in the literature. CASE DIAGNOSIS/TREATMENT: A 16-year-old Black male with SCD had bilateral kidney enlargement and multiple simple cysts on ultrasound. Although kidney cysts are significantly more common in individuals affected with SCD, genetic testing with a broad kidney gene panel was performed to explore the possible presence of another underlying genetic cause of his cysts, in addition to SCD. A dual diagnosis of SCD and ADPKD was made following the identification of two copies of the common pathogenic sickle cell HBB variant (c.20A > T, p.Glu7Val) and a pathogenic missense variant in PKD1 (c.8311G > A, p.Glu2771Lys). CONCLUSIONS: SCD and ADPKD differ in pathophysiological mechanisms and treatment regimens. As such, it will be paramount for this teenager to be closely monitored for signs of diminished kidney function and to be co-managed as he transitions to adult care to ensure proper treatment and management. Early identification of individuals with both SCD and a co-occurring condition is crucial to ensuring proper clinical management. Furthermore, identifying and reporting additional patients with SCD and ADPKD dual diagnoses will help us to understand the co-occurring disease course and optimal treatments.

Reaching the Hard-to-Reach: Outcomes of the Severe Hypertension Outreach Intervention.

INTRODUCTION: Severe hypertension (≥180 mmHg systolic or ≥110 mmHg diastolic) is associated with a twofold increase in the relative risk of death. At the authors' Federally Qualified Health Center in the Southeast, 39% of adults (n=8,695) had hypertension, and 3% (n=235) were severe. The purpose of this project was to lower blood pressure and improve the proportion of patients achieving the Agency for Healthcare Research and Quality goal for blood pressure. METHODS: This quality improvement project was performed in 2017 in three 3-month Plan, Do, Study, Act cycles using a multidisciplinary outreach model in a community-based primary care setting. A clinical team including physicians, nurses, patient navigators, behavioral health counselors, and pharmacists contacted adult patients with severe hypertension (≥180/110 mmHg), scheduled visits, and established blood pressure and medication management goals. The data review and analysis concluded in 2019. RESULTS: Among patients with blood pressure ≥180/110 mmHg (n=235), the average age was 57 years (SD=12 years), 37% (n=87) were male, 82% (n=193) were Black, and 46% (n=108) were uninsured. The majority of those contacted attended a follow-up appointment within the 9-month project (77%, n=181) and achieved an improved systolic blood pressure (87%, n=167) and diastolic blood pressure (76%, n=146). Target blood pressure of <140/90 mmHg was achieved in 29% of patients (n=53). Medication possession ratio improved from 23% to 40% among patients reached by pharmacists (n=30). Fewer deaths occurred in those reached by the intervention than in those not reached (n=1 vs n=3). CONCLUSIONS: Multidisciplinary outreach and use of evidence-based guidelines (Eighth Joint National Committee) were associated with lower blood pressure in patients with severe hypertension.

Reducing high-risk medication use through pharmacist-led interventions in an outpatient setting.

OBJECTIVE: This study aimed to reduce high-risk medication (HRM) prescribing by direct electronic medical record messaging to providers. SETTING: Lincoln Community Health Center is a federally qualified health center in the southeast United States. PRACTICE DESCRIPTION: This was a single-center, observational study performed with quality improvement methodology including define, measure, analyze, improve, and control phases. A total of 89 patients, aged 65 years or older, received 115 HRM prescriptions from August 2016 to August 2018. Project follow-up period included September 2018 to April 2019, with 19 additional patients receiving 23 HRM prescriptions. PRACTICE INNOVATION: Shared electronic medical records allowed pharmacists to electronically communicate indication of HRM, possible alternatives to HRM, and pharmacy of choice to providers to reduce HRM prescribing. Pharmacists' recommendations were timed to appear in providers' inboxes 3 to 5 days before the patient's clinic visit. Patients not returning to the clinic in a timely manner were telephoned by pharmacists with medical provider approved HRM alternative recommendations. EVALUATION: Discontinuation of HRMs were verified by chart review and insurance claims. The Cochran-Armitage trend test was used to examine significance of change related to national benchmark prescribing rates. Two-sided z test was used to analyze significance of change from implementation to follow-up period. RESULTS: Fifty-two provider communications sent by clinical pharmacists resulted in a therapy modification rate of 71.2%. National benchmark data that reflected a peak HRM prescribing rate of 10.7% was reduced to 1.9% within 18 months (P = 0.014). The national benchmark goal of less than 3% HRM prescribing was achieved and sustained from February 2019 to May 2019. CONCLUSION: Using interdisciplinary access to electronic medical records resulted in significant rates of HRM discontinuation. Timing messages before patient clinic visits promotes shared decision making.

Salvage Treatment of Mucormycosis Post-Liver Transplant With Posaconazole During Sirolimus Maintenance Immunosuppression.

We describe the first successful case of posaconazole salvage therapy for mucormycosis with concomitant sirolimus (SRL) maintenance immunosuppression following liver transplantation, despite black box drug interaction following intolerance to first-line tacrolimus and amphotericin due to nephrotoxicity and neurotoxicity. This case describes a 55-year-old female who developed rhinocerebral mucormycosis 108 days after liver transplantation. After 3 months of posaconazole therapy, the patient remains free of disease at 3 years posttransplant. This case report illustrates successful resolution of mucormycosis without SRL toxicity to resolve nephrotoxicity of long-term amphotericin on top of already nephrotoxic immunosuppression. With higher bioavailability of recently FDA-approved posaconazole delayed release tablets, this azole may be a therapeutic option for transplant patients who need to remain on CYP3A4-metabolized immunosuppressive agents.