Cacchi Ricci disease
Cacchi Ricci Disease Cacchi Ricci disease, also known as medullary sponge kidney (MSK), is a rare congenital disorder characterized by the malformation of the renal medullary pyramids. This condition leads to the formation of cysts and dilated collecting ducts in one or both kidneys. The disease is named after the Italian pathologists Cacchi and Ricci, who first described it in the early 20th century.
Pathophysiology[edit | edit source]
Cacchi Ricci disease is primarily a developmental anomaly of the kidney. The renal medulla is affected, where the collecting ducts become dilated and form cysts. These cysts can lead to urinary stasis, which predisposes individuals to nephrolithiasis (kidney stones) and urinary tract infections (UTIs).
Clinical Presentation[edit | edit source]
Patients with Cacchi Ricci disease may be asymptomatic or present with symptoms related to complications. Common symptoms include:
- Flank pain
- Hematuria (blood in urine)
- Recurrent UTIs
- Kidney stones
Diagnosis[edit | edit source]
The diagnosis of Cacchi Ricci disease is often made using imaging studies. Intravenous pyelogram (IVP) and computed tomography (CT) scans are commonly used to visualize the characteristic "brush-like" appearance of the renal pyramids. Ultrasound may also be used to detect cysts and stones.
Treatment[edit | edit source]
There is no cure for Cacchi Ricci disease, and treatment is primarily symptomatic. Management strategies include:
- Hydration to prevent stone formation
- Pain management
- Antibiotics for UTIs
- Surgical intervention for large or obstructive stones
Prognosis[edit | edit source]
The prognosis for individuals with Cacchi Ricci disease varies. Many patients live normal lives with proper management of symptoms. However, complications such as recurrent infections and kidney stones can impact quality of life.
Epidemiology[edit | edit source]
Cacchi Ricci disease is considered a rare condition, with an estimated prevalence of 1 in 5,000 to 1 in 20,000 individuals. It affects both males and females equally and can be diagnosed at any age, although it is often identified in young adults.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Cacchi Ricci disease is a rare disease.
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