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Chapter 45: Cystic Diseases of the Kidney

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Which ONE of the following scenarios is MOST compatible with the abdominal MRI shown in Figure 1?

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Figure 1. Coronal T2 weighted abdominal MRI.

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A. A 17-year-old girl with a known mutation in PKHD1 gene, a total kidney volume of approximately 5500 mL at that age.

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B. A 78-year-old woman with a hypomorphic mutation in PKD1 gene, a total kidney volume of approximately 5500 mL at that age and eGFR of 25 mL/min/1.73 m2.

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C. A 24-year-old woman with a known mutation in PKD2 gene, a total kidney volume of approximately 5500 mL at that age, and eGFR of 25 mL/min/1.73 m2.

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D. A 48-year-old woman with a known mutation in PKD1 gene, a total kidney volume of approximately 5500 mL at that age and eGFR of 25 mL/min/1.73 m2.

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E. A 48-year-old woman with a known mutation in Sec63 gene, a total kidney volume of approximately 5500 mL at that age, and eGFR of 25 mL/min/1.73 m2.

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The answer is D. The abdominal MRI shows bilateral and diffuse distribution with marked replacement of kidney tissue by cysts. This image is most consistent with the typical presentation of a 48-year-old female patient with a mutation in the PKD1 gene (answer D). Most commonly, adolescents with biallelic mutations in PKHD1 gene (answer A) present with small cysts, and the most common liver manifestation is congenital hepatic fibrosis. Patients with PKD1 hypomorphic mutations (answer B) or PKD2 mutations (answer C) usually present with mild-moderate disease. Although patients with Sec63 mutations (answer E) may present with a few renal cysts, mutations in this gene cause autosomal dominant polycystic liver disease.

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A 26-old-year woman consulted for sudden onset of chest pain accompanied by shortness of breath. A physical examination revealed the presence of multiple cutaneous hypomelanotic macules. A chest radiograph indicated the presence of pneumothorax and the chest CT revealed the presence of multiple thin-walled cysts of various sizes in the pulmonary parenchyma and subpleurally. An abdominal CT showed the presence of a few bilateral renal cysts and two renal masses consistent with angiomyolipomas.

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Which ONE of the following is the most the most likely diagnosis?

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A. Autosomal dominant PKD

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B. Autosomal recessive PKD

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C. Tuberous sclerosis complex

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D. Multiple simple cysts

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E. Von Hippel–Lindau disease

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The answer is C....

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