Presentation
The patient presented with right sided flank pain. Routine investigations revealed low hemoglobin and elevated serum creatinine.
Patient Data
Non-contrast CT images (axial and coronal views) show multiple cystic lesions in the hepatic parenchyma. Innumerable small cysts are seen in both kidneys which are enlarged with markedly thinned renal parenchyma. A large calculus is seen in right upper ureter, which was causing the patient's symptoms.
No cysts are seen in the pancreas and spleen.
Case Discussion
Autosomal dominant polycystic kidney disease (ADPKD) is a multisystem disorder characterized by cyst formation in various organs, including kidneys, liver, pancreas, and spleen. At least two genes are involved in its pathogenesis: PKD1 (located on chromosome 16) and PKD2 (located on chromosome 4).
Clinical features are variable, and patients may present with flank pain, palpable abdominal or flank mass, hematuria, hypertension, and acute renal failure.
On imaging, numerous cysts are seen in the kidneys which are prone to hemorrhage and infection.
Extra-renal manifestations include cysts in other organs (including liver, pancreas, and spleen), central nervous system cysts (most commonly arachnoid cysts), intracranial berry aneurysms, cardiac complications (including early-onset hypertension, left ventricular hypertrophy (LVH), pericardial effusions and cardiac valvular abnormalities), respiratory complications (such as bronchiectasis and pulmonary cysts), diverticular disease, and decreased fertility in males.
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