Cacchi–Ricci disease

Cacchi–Ricci Disease

Cacchi–Ricci disease, also known as medullary sponge kidney (MSK), is a congenital disorder of the kidneys characterized by the presence of cystic dilations in the medullary and papillary regions of the renal pyramids. This condition is often discovered incidentally during imaging studies for other reasons, as many individuals with Cacchi–Ricci disease are asymptomatic.

Pathophysiology

Cacchi–Ricci disease is caused by developmental malformations of the collecting ducts in the renal pyramids. These malformations lead to the formation of cysts, which can cause urinary stasis and predispose individuals to kidney stones and urinary tract infections. The exact genetic or environmental factors leading to these developmental anomalies are not fully understood.

Clinical Presentation

Many patients with Cacchi–Ricci disease are asymptomatic and may never experience any related health issues. However, some individuals may present with:

• Recurrent kidney stones
• Hematuria (blood in the urine)
• Urinary tract infections
• Flank pain

The presence of kidney stones is often the first indication of the disease, as the stones can cause significant pain and discomfort.

Diagnosis

Cacchi–Ricci disease is typically diagnosed through imaging studies. The most common imaging modalities used include:

• Intravenous pyelogram (IVP):This imaging technique can reveal the characteristic "brush-like" appearance of the renal pyramids due to the presence of cysts.
• Computed tomography (CT) scan:A CT scan can provide detailed images of the kidneys and is often used to identify kidney stones and other abnormalities.
• Ultrasound:While less detailed than CT, ultrasound can sometimes detect the cystic changes in the kidneys.

Management

There is no specific cure for Cacchi–Ricci disease, and treatment is generally focused on managing symptoms and preventing complications. Management strategies include:

• Hydration:Encouraging high fluid intake to reduce the risk of kidney stone formation.
• Pain management:Using analgesics to manage pain associated with kidney stones.
• Antibiotics:Treating urinary tract infections promptly to prevent complications.
• Surgical intervention:In some cases, surgical procedures may be necessary to remove large or obstructive kidney stones.

Prognosis

The prognosis for individuals with Cacchi–Ricci disease is generally good, especially for those who remain asymptomatic. Regular monitoring and management of symptoms can help prevent complications and maintain kidney function.

Also see

• Kidney stone disease
• Urinary tract infection
• Congenital kidney anomalies