Serpentine fibula–polycystic kidney syndrome

Serpentine fibula–polycystic kidney syndrome (SFPKS) is a rare genetic disorder characterized by the abnormal development of the fibula bone in the leg, which appears twisted or serpentine, and the presence of multiple cysts in the kidneys. This condition is part of a group of diseases known as ciliopathies, which are caused by defects in the function of cilia, microscopic hair-like structures that play a crucial role in various cellular processes.

Symptoms and Signs

The primary features of Serpentine fibula–polycystic kidney syndrome include the distinctive shape of the fibula and the development of polycystic kidney disease (PKD). Individuals with this syndrome may also exhibit a range of other symptoms, including:

• Abnormalities in the development of other bones
• Hypertension (high blood pressure) due to kidney dysfunction
• Urinary tract infections (UTIs) and other kidney-related issues
• Possible intellectual disability or developmental delays
• Short stature and limb length discrepancies

Causes

SFPKS is believed to be caused by mutations in genes that are important for the proper functioning of cilia. While the exact genetic cause is not always identified, mutations in genes associated with ciliopathies are often implicated. These genetic changes are inherited in an autosomal dominant manner, meaning only one copy of the altered gene is necessary to cause the disorder.

Diagnosis

Diagnosis of Serpentine fibula–polycystic kidney syndrome is primarily based on the clinical presentation and radiographic findings, particularly the characteristic appearance of the fibula and the presence of kidney cysts. Genetic testing may be helpful in confirming the diagnosis and understanding the inheritance pattern. Additional tests, including kidney function tests and imaging studies like ultrasound or MRI, are used to assess the extent of kidney involvement and other potential abnormalities.

Treatment

There is no cure for SFPKS, and treatment focuses on managing symptoms and preventing complications. Management strategies may include:

• Regular monitoring of kidney function and blood pressure
• Treatment of hypertension and urinary tract infections
• Surgical interventions for bone abnormalities, if necessary
• Supportive therapies for developmental delays or intellectual disabilities

Prognosis

The prognosis for individuals with Serpentine fibula–polycystic kidney syndrome varies depending on the severity of kidney involvement and other associated complications. Early diagnosis and management of kidney disease and other symptoms can improve the quality of life and potentially prolong life expectancy.

See Also

• Ciliopathy
• Polycystic kidney disease
• Genetic disorders
• Bone dysplasia

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