Galloway Mowat syndrome
Galloway Mowat syndrome (GMS) is a rare genetic disorder characterized by early-onset nephrotic syndrome and distinct neurological abnormalities. The syndrome was first described by Galloway and Mowat in 1968.
Clinical Features
The clinical features of Galloway Mowat syndrome are highly variable. The most common features include early-onset nephrotic syndrome, which often progresses to end-stage renal disease, and neurological abnormalities, which can include microcephaly, developmental delay, intellectual disability, and seizures. Other features can include dwarfism, hiatus hernia, and ocular abnormalities.
Genetics
Galloway Mowat syndrome is caused by mutations in the KEOPS complex genes. The KEOPS complex is involved in the modification of transfer RNAs, a process that is essential for protein synthesis. Mutations in these genes disrupt the function of the KEOPS complex, leading to the symptoms of Galloway Mowat syndrome.
Diagnosis
The diagnosis of Galloway Mowat syndrome is based on the presence of early-onset nephrotic syndrome and neurological abnormalities. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for Galloway Mowat syndrome. Treatment is supportive and focuses on managing the symptoms of the disease. This can include medications to manage seizures and other neurological symptoms, and dialysis or kidney transplantation for end-stage renal disease.
Prognosis
The prognosis for individuals with Galloway Mowat syndrome is poor. Most individuals with the syndrome do not survive past childhood, although some individuals have lived into adulthood.
See Also
NIH genetic and rare disease info
Galloway Mowat syndrome is a rare disease.
WikiMD neurology
External links
- Comprehensive information from the National Institute of health.
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Contributors: Prab R. Tumpati, MD
