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A 12-year-old girl presents with left flank pain, hematuria, and proteinuria. Her vital signs are: HR 90, RR 18, BP 106/54, O2 sat 99% on room air, weight 31 kg, BMI 14.8 (10th percentile). Her physical exam is unremarkable and she has no significant past medical history. She is taking no medications and had no recent travel.
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December 29, 2024 at 10:38 pm
B) Nutcracker syndrome
Nutcracker syndrome is a rare process where the left renal vein is compressed between the aorta and the superior mesenteric artery; it is more common in underweight individuals. Christmas disease is an eponymous name for Hemophilia B, which although it could cause hematuria in a female carrier would be unlikely to also cause proteinuria and flank pain. Holiday heart syndrome refers to cardiac dysrhythmia, typically atrial fibrillation, brought on by binge drinking. Grinch syndrome is another name for POTS (postural orthostatic tachycardia syndrome). Angelman syndrome results from a rare genetic chromosomal microdeletion from the maternal chromosome 15. Affected children have developmental delay, a happy demeanor, and hand-flapping movements. The same microdeletion from the paternal chromosome results in Prader-Willi syndrome.