Definition:
Galloway Mowat syndrome is a rare genetic disorder found to on autosomal recessive genes. There are many varieties of Galloway Mowat syndrome. It is also known as Hiatal Hernia – Microcephaly – Neprhosis, Galloway Type; Microcephaly-Hiatal Hernia-Nephrosis, Galloway Type; Nephrosis-Microcephaly Syndrome; Nephrosis-Neuronal Dysmigration Syndrome; and Microcephaly-Hiatal Hernia-Nephrotic Syndrome. This disease is characterized by the onset of nephritic syndrome and central nervous system anomalies at an early age.
Diagnosis:
An antenatal diagnosis may be done to detect Galloway Mowat syndrome.
Treatment:
There has not been an effective treatment for curing Galloway Mowat syndrome both for its renal and neurologic manifestations.
Symptoms and Signs:
Physical features of children diagnosed with Galloway Mowat syndrome include microcephaly, craniofacial abnormalities, diffuse mesangial sclerosis or focal glomerulosclerosis resulting in Nephrotic syndrome, and Hiatal or diaphragmatic hernia. Other physical symptoms to take note of include various brain malformations, seizures, generalize hypotonia, hyperreflexia.
Infants diagnosed with Galloway Mowat syndrome may exhibit developmental delays and disabilities. Mental retardation may even be possible with the disease.
Causes:
The exact cause of Galloway Mowat syndrome has yet to be identified but certain mutations concerning podocyte proteins have been studied to be the cause for the disease. Podocyte proteins include include alpha-actinin 4, podocin, and nephrin have been associated with nephritic syndrome and proteinuria.
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