Real Cases of Rare Diseases - PH1: Expert Guidance on Recognition and Management (Expired)
Faculty: David S. Goldfarb, MD, FASN Grant Support: Alynlam
Joint Providers: Postgraduate Institute for Medicine and Enquiring Minds, LLC
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3 patient cases which enable clinicians to evaluate and integrate expert guidance when tailoring treatment plans, which may include therapeutic options, patient- and family-centered considerations, clinical considerations and transitioning to adult care.
Isabella
Isabella is a 23-year-old cab driver who is referred to a nephrologist by her urologist. She had her first kidney stone at age 16 years. Since then, she has passed 3 stones and had ureteroscopy twice for obstructing stones on each side. Her past medical history is otherwise negative, and she has no family history of stones.
Matthew
Matthew is a 14-year-old boy who presents with his second kidney stone. His first stone passed spontaneously, but the second required shock-wave lithotripsy.
Janine
Janine is a 27-year-old woman who has a history of multiple calcium oxalate stones. A 24-hour urine collection demonstrates hyperoxaluria. Genotyping is performed and indicates that she has biallelic mutations in AGXT, consistent with pyridoxine-sensitive PH1.