"Brenda" is a real patient. Her name has been changed for confidentiality.
Brenda
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Brenda is a 60-year-old woman who was diagnosed with Autosomal Dominant Polycystic Kidney Disease (ADPKD) in her fifth decade of life.
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She works as a clinical toxicologist at a university hospital.
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She was told of a family history of ADPKD in her 20s and experienced stage 2 hypertension at age 34 (1).
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Although Brenda had no ADPKD symptoms, her hypertension and family history prompted her primary care provider to refer her to a nephrologist for assessment, and she was diagnosed with ADPKD at age 42.
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Genetic testing revealed she has a PKD2 missense mutation (2).
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During treatment for carotid artery occlusion, Brenda was found to have 2 intracranial aneurysms (ICAs). Magnetic resonance angiography (MRA) revealed a 3-mm and 4-mm basilar artery aneurysm. Endovascular coil placement was followed by MRA surveillance every 5 years (3).
Family History
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Brenda’s mother has ADPKD. She was diagnosed in her seventh decade of life. She had pancreatic cysts and underwent a pancreatoduodenectomy in her late 60s.
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Brenda’s maternal uncle was diagnosed with ADPKD in his 50s.
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She has no known family history of ICA or subarachnoid hemorrhage.
Comorbidities
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Hypertension
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Prediabetes
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Hypercholesterolemia
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GERD
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Obesity
Current Medications
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Telmisartan 60 mg/d
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Rosuvastatin 20 mg/d
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Rabeprazole 20 mg/d
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Calcium supplement
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Vitamin D (5000 IU/d)
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Tolvaptan 60 mg at waking, 30 mg after 8 hours (90 mg daily)