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- Autosomal recessive
- mutation in NaKCl symport in ascending loop of Henle
- symptoms as though on a permenant loop diuretic - low K, dehydration?
- mutation in NaCl channel in distal convoluted tubule
- symptoms as though on a permanent thiazide - low K, dehydration?
- Normal Copper Absorption
- 1. CMT1 (copper membrane transporter) allows Cu into GI cells
- 2. ATP7A (enzyme) releases copper from GI cells into the portal circulation
- 3. ATP7B links copper to ceruloplasmin and secretes excess into bile
- Mutation in ATP7B therefore:
- 1. Copper not bound to ceruloplasmin
- 2. Excess copper not excreted
- low ceruloplasmin, high free copper, high urinary copper
- * Liver disease
- * Neuropsychiatric symptoms
- * Kayser-Fleischer rings/sunflower cataracts
- * renal tubular acidosis (calcium accumulation in kidneys
- * cardiomyopathy, arrhythmias
- * low PTH, infertility