]> 2026-07-31T07:28:18+00:00 WBR0104 0 en Caused by a defect in a gene that encodes sodium-permeable ion channel complex ADPKD is caused by mutations of ''PKD1'' and ''PKD2'' genes that encode for polycystins. These proteins form a calcium-permeable ion channel complex. There is no role for sodium channels in the early pathophysiology of ADPKD. Caused by a defect of cilium flow response Polycystins, which are the defect proteins among patients with ADPKD, regulate the cell cycle and the function of renal primary (immotile) cilium. Caused by autoantibodies against glomerular basement membrane Caused by a mutant gene located on chromosome 18 Associated with hepatic cysts that are more massive in men than in women Although hepatic cysts are associated with ADPKD, women tend to have massive cystic enlargement of the liver due to the role that estrogen plays in accentuating the growth of these cysts. Genetics A 48-year-old woman presents to her primary care physician with a gradual onset of increasing fatigue, swelling in her feet, and anorexia. Recently, she has also been noticing her urine color is darker, and she is having an unusual back pain. The patient's past medical history is only significant for appendectomy and cesarean section. She denies smoking, alcohol intake, or use of illicit drugs. Her father is a renal transplant recipient and her paternal uncle is currently on hemodialysis. In the clinic, her temperature is 37.2 °C (98.9 °F), her blood pressure is 155/110 mmHg, and her heart rate is 76/min. Physical examination is remarkable for bilateral solid masses that can be palpated during abdominal examination. Light tapping of the back elicits sharp pain on both sides. Laboratory studies are significant for hemoglobin count of 9.8 g/dL, serum creatinine of 2.3 mg/dL, and BUN of 20 mmol/L. Urinalysis is remarkable for 500+ RBC/hpf. Which of the following is most likely true regarding this patient’s condition? B Renal 2020-10-27T23:21:29Z 2459150.4732523 WBR0104