Galloway Mowat syndrome
Galloway Mowat Syndrome
Galloway Mowat Syndrome (pronunciation: gal-oh-way mow-at sin-drome) is a rare genetic disorder characterized by early-onset nephrotic syndrome and microcephaly, often accompanied by various neurological and physical abnormalities.
Etymology
The syndrome is named after the two doctors, Dr. David Galloway and Dr. William Mowat, who first described the condition in 1968.
Symptoms
The primary symptoms of Galloway Mowat Syndrome include nephrotic syndrome, which is a kidney disorder causing the body to excrete too much protein in the urine, and microcephaly, a condition where the head is smaller than normal because the brain has not developed properly or has stopped growing. Other symptoms can include intellectual disability, seizures, and distinct facial features.
Causes
Galloway Mowat Syndrome is caused by mutations in the KEOPS complex genes. These mutations are inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations.
Diagnosis
Diagnosis of Galloway Mowat Syndrome is based on clinical evaluation, detailed patient history, and specialized genetic testing.
Treatment
Treatment is symptomatic and supportive. It often involves managing kidney disease with medications and, in some cases, kidney transplantation. Neurological symptoms are managed with medications and supportive therapies.
Prognosis
The prognosis for individuals with Galloway Mowat Syndrome varies. Some individuals have a normal lifespan with mild symptoms, while others may have severe complications.
See Also
External links
- Medical encyclopedia article on Galloway Mowat syndrome
- Wikipedia's article - Galloway Mowat syndrome
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