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Melanotic neuroectodermal tumor of infancy
Joseph Junewick, MD FACR
over 8 years ago
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Case History


Teenager with hypertension.


Case Detail

Anatomy: Genitourinary
Junewick
Joseph Junewick, MD FACR
Diagnostic Category:
Created: over 8 years ago
Updated: over 7 years ago
Tags: PEDS
Modality/Study Types: US
Activities:
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Reveal Findings

US – Markedly enlarged kidneys with near total replacement of the parenchyma by cysts of varying sizes.

Reveal Discussion

There are 2 forms of ADPKD each with a unique chromosomal defect. PKD1 is more common and more severe and presents earlier than PKD2. Most mutations are inherited but about 10% are spontaneous.

Most patients with ADPKD are asymptomatic in childhood but may present with renal failure or hypertension. Kidneys are usually enlarged by cysts of varying sizes. Renal involvement may be asymmetric. Cysts become more numerous with age; the liver and pancreas may develop cysts as well.

Aneurysms of the circle of Willis are seen in about 15% of patients with ADPKD although do not usually manifest until adulthood.

Reveal Diagnosis

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

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