What is Frasier Syndrome?
Frasier Syndrome, also known as X-linked glomerulopathy, is a rare genetic disorder caused by mutations in the Wilms tumor 1 (WT1) gene located on the X chromosome. This gene plays a key role in kidney development and functions. Mutations in the WT1 gene cause abnormal cell growth and functioning of the kidneys.
Signs and Symptoms
The signs and symptoms of Cryptophthalmos syndrome usually appear in childhood or adolescence. Some common signs and symptoms include:
- Protein in the urine (proteinuria): This is one of the earliest signs as it indicates kidney damage. It develops during childhood.
- Kidney failure: As the disease progresses, it damages kidney filtering units called nephrons which leads to kidney failure. This usually occurs during adolescence or early adulthood.
- High blood pressure: Elevated blood pressure develops as kidney function worsens.
- Genital abnormalities in males: Mutations in the WT1 gene can cause ambiguous or underdeveloped genitalia in males.
- Slow growth: Kidney damage and protein loss through urine can cause poor growth in height.
- Hearing loss: Some patients may experience hearing loss of varying degree.
Causes
Cryptophthalmos syndrome is caused by mutations in the WT1 gene located on the X chromosome. Frasier Syndrome is inherited in an X-linked manner as the WT1 gene is located on the X chromosome.
- Males are affected more severely than females because they have only one X chromosome. Females have two X chromosomes and are usually carriers with mild or no symptoms.
- The condition occurs due to new (de novo) mutations in the WT1 gene in about half of the cases. The other half inherit it from their mothers who are carriers.
Diagnosis
As Cryptophthalmos syndrome signs and symptoms are non-specific, diagnosis can be tricky. Tests used to diagnose include:
- Urinalysis to check for presence of protein.
- Blood tests to check kidney function levels like creatinine and BUN.
- Genetic testing of the WT1 gene to identify the specific mutation causing the disease.
- Ultrasound or biopsy of kidneys to assess damage.
- Checking for abnormal genitalia in newborn males.
Treatment and Management
There is no cure for Cryptophthalmos syndrome as the genetic changes cannot be repaired. Treatment focuses on slowing the progression and managing complications:
- Strict control of blood pressure to prevent further kidney damage using medications.
- Early detection and treatment of urinary tract infections.
- Managing kidney failure stage with dialysis or kidney transplant if required.
- Growth hormone treatment in cases of growth failure.
- Genetic counseling to understand risks of passing it to offspring.
Prognosis
The prognosis depends on the severity of mutations and how early treatment begins. With appropriate care:
- Most patients reach adulthood despite progressive kidney disease. However, some may require dialysis or transplant in late teens or early adulthood.
- Females usually experience milder or asymptomatic cases. Their chance of passing the condition to sons is 50%.
- With multidisciplinary care and treatments, life expectancy has improved compared to the past. But end-stage kidney disease remains a risk.
Recognizing Cryptophthalmos syndrome
While rare, timely diagnosis of Cryptophthalmos syndrome is important to understand risks and manage complications early through adequate care. Some key factors include:
- Identifying family history of nephropathy, kidney disease or ambiguous genitalia.
- Screening newborn males for ambiguous genitalia and checking for protein in urine.
- Monitoring growth in children and checking renal functions if concerns arise.
- Considering genetic testing if signs point towards X-linked inheritance pattern.
- Providing genetic counseling to understand recurrence risks and reproductive options.
- Coordinating long-term multidisciplinary care involving nephrologists, urologists, dieticians and social workers.
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