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Old 11-21-2012
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Arrow Billy Step 1 Questions # 93

A 35-year-old woman presents with dull, persistent flank and abdominal pain, polyuria, nocturia, and frequent urinary tract infections. Physical examination is notable for blood pressure of 150/90 mm Hg and multiple bilateral abdominal masses. Urinalysis is notable for microscopic hematuria and 1+ protein. CT of the abdomen reveals multiple cysts in the kidneys. The patient notes that she was adopted and knows nothing about her family medical history. What is the most likely etiology of this patientís illness?


(A) A mutation on chromosome 3
(B) A mutation on chromosome 6
(C) A mutation on chromosome 9
(D) A mutation on chromosome 16
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Old 11-21-2012
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Answer is D
The Patient has Polycystic Kidney Disease (most common mutation in PKD1 gene on chromosome 16)
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Old 11-21-2012
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Default D

(D) A mutation on chromosome 16
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Old 11-22-2012
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D) A mutation on chromosome 16
PKD1
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Old 11-22-2012
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Quote:
Originally Posted by billy View Post
A 35-year-old woman presents with dull, persistent flank and abdominal pain, polyuria, nocturia, and frequent urinary tract infections. Physical examination is notable for blood pressure of 150/90 mm Hg and multiple bilateral abdominal masses. Urinalysis is notable for microscopic hematuria and 1+ protein. CT of the abdomen reveals multiple cysts in the kidneys. The patient notes that she was adopted and knows nothing about her family medical history. What is the most likely etiology of this patientís illness?


(A) A mutation on chromosome 3
(B) A mutation on chromosome 6
(C) A mutation on chromosome 9
(D) A mutation on chromosome 16
It is ADPKD
but not sure about mutation. May be ch 6 or 16
(B) A mutation on chromosome 6 ????
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Old 11-23-2012
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Correct Answer D is correct

The patientís symptoms are consistent with adult polycystic kidney
disease (APKD), a disease most commonly caused by mutation of the polycystin 1 gene located on chromosome 16. APKD can also be caused by a mutation in polycystin 2 located on chromosome 4, although this is less common. APKD is characterized by the growth of renal cysts, which are believed to lead to renal failure by compressing adjacent normal parenchyma. The disease often presents in the third or fourth decade of life, and symptoms and signs include abdominal discomfort, frequent urinary tract infections, hematuria, polyuria, and nocturia. Cystic kidneys are often seen on imaging. Mild proteinuria is common. Hepatic cysts, as seen in the image, are also common. The disease is also associated with berry aneurysms and mitral valve prolapse.

Answer A is incorrect. A mutation on chromosome 3 is associated with von Hippel-Lindau disease, which can not only cause renal cysts but also retinal angiomas and central nervous system hemangioblastomas.

Answer B is incorrect. A mutation on chromosome 6 is associated with recessive polycystic kidney disease, which is associated with a much younger age of onset.

Answer C is incorrect. A mutation on chromosome 9 is associated with tuberous sclerosis, which can not only cause renal cysts, but also presents with adenoma sebaceum and central nervous system hamartomas
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