CEREBROHEPATORENAL SYNDROME Meaning and
Definition
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Cerebrohepatorenal Syndrome (CHRS) is a rare genetic disorder that primarily affects the brain, liver, and kidneys. It is an autosomal recessive condition, meaning both copies of the responsible gene must be mutated for an individual to develop the syndrome.
The main characteristic of CHRS is the progressive deterioration of the central nervous system, leading to intellectual disability, developmental delay, and movement abnormalities. Neurological symptoms may include seizures, muscle stiffness, poor muscle coordination, and involuntary movements. Affected individuals may also have a diminished ability to control their facial muscles, leading to distinctive facial features such as a prominent forehead, a flat midface, and a triangular-shaped mouth.
The liver and kidneys are also significantly affected in CHRS. Liver involvement may manifest as hepatomegaly (enlarged liver), abnormal liver function tests, and liver fibrosis. Renal dysfunction can result in proteinuria (excessive protein in the urine), renal tubular acidosis (a condition affecting the acid-base balance in the body), and chronic kidney disease.
Delays in growth and development, hearing impairment, visual problems, and distinctive skeletal abnormalities, such as abnormal curvature of the spine, may also be present in individuals with CHRS.
The diagnosis of CHRS is typically made based on clinical features and genetic testing to identify mutations in the responsible gene. Treatment mainly focuses on managing symptoms and providing appropriate supportive care, as there are currently no specific therapies available to cure CHRS. A multidisciplinary approach involving various specialists, such as neurologists, hepatologists, nephrologists, and genetic counselors, is often necessary to optimize the management of individuals with this syndrome.
Common Misspellings for CEREBROHEPATORENAL SYNDROME
- xerebrohepatorenal syndrome
- verebrohepatorenal syndrome
- ferebrohepatorenal syndrome
- derebrohepatorenal syndrome
- cwrebrohepatorenal syndrome
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- cdrebrohepatorenal syndrome
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- c4rebrohepatorenal syndrome
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- cerwbrohepatorenal syndrome
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- cerdbrohepatorenal syndrome
- cerrbrohepatorenal syndrome
Etymology of CEREBROHEPATORENAL SYNDROME
The word "Cerebrohepatorenal Syndrome" is composed of three root words: cerebro, hepat, and renal.
1. Cerebro: This root word is derived from the Latin word "cerebrum", which means "brain". It refers to anything related to the brain.
2. Hepat: This root word is derived from the Greek word "hepar" or the Latin word "hepat", both of which mean "liver". It refers to anything related to the liver.
3. Renal: This root word is derived from the Latin word "renes", which means "kidneys". It refers to anything related to the kidneys.
Therefore, the term "Cerebrohepatorenal Syndrome" is a descriptive term indicating a syndrome that affects the brain, liver, and kidneys.
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