Wunderlich syndrome

A rare genetic disorder characterized by specific symptoms and inheritance patterns

Wunderlich Syndrome

Diagram of autosomal dominant inheritance pattern

Wunderlich syndrome is a rare genetic disorder characterized by spontaneous, non-traumatic renal hemorrhage. It is named after the German physician Carl Reinhold August Wunderlich, who first described the condition. The syndrome is often associated with renal angiomyolipoma, a benign tumor of the kidney, and can lead to sudden onset of flank pain, hematuria, and hypovolemic shock.

Clinical Presentation

Patients with Wunderlich syndrome typically present with the classic triad of symptoms: acute flank pain, hematuria, and signs of internal bleeding such as hypotension and tachycardia. The condition can occur spontaneously, often without any preceding trauma, and may be life-threatening if not promptly diagnosed and managed.

Pathophysiology

Wunderlich syndrome is most commonly associated with renal angiomyolipomas, which are composed of blood vessels, smooth muscle, and fat. These tumors are prone to rupture due to their abnormal vasculature, leading to hemorrhage. The condition can also be seen in association with other renal pathologies, such as renal cell carcinoma or polycystic kidney disease.

Diagnosis

The diagnosis of Wunderlich syndrome is typically made through imaging studies. Ultrasound and computed tomography (CT) scans are commonly used to identify the presence of renal masses and hemorrhage. CT scans are particularly useful in assessing the extent of bleeding and guiding further management.

Management

The management of Wunderlich syndrome depends on the severity of the hemorrhage and the underlying cause. In cases of significant bleeding, interventional radiology techniques such as embolization may be employed to control the hemorrhage. Surgical intervention may be necessary in cases where embolization is not feasible or successful. Conservative management with close monitoring may be appropriate for stable patients with minimal bleeding.

Genetic Aspects

Wunderlich syndrome can be associated with genetic conditions such as tuberous sclerosis complex, which follows an autosomal dominant inheritance pattern. This genetic disorder is characterized by the development of benign tumors in multiple organs, including the kidneys.

Related Pages

• Renal angiomyolipoma
• Tuberous sclerosis complex
• Renal cell carcinoma
• Polycystic kidney disease