Galloway-Mowat syndrome
Hello Dr.
Lin: I would like to gain a better understanding of this condition (Galloway-Mowat syndrome) because I have a friend who has a baby with this disease.
I have searched extensively online and in books for information related to this condition, but the resources are still limited.
Could you please help us understand this disease better? Thank you!
Qiu Xiaojie, 30~39 year old female. Ask Date: 2006/11/21
Dr. Lin Xuanpei reply Rare Disease
Galloway-Mowat syndrome is a severe congenital kidney disease associated with microcephaly and brain development abnormalities, often characterized by unique facial features.
Many affected children have long, slender fingers and toes, and it is classified as an autosomal recessive genetic disorder.
In Taiwan, there are known cases, with at least three being familial, thus family members should receive genetic counseling.
Patients typically present with nephrotic syndrome within weeks of birth, with significant proteinuria detectable in the urine, and gradual edema of the face and other body parts, making effective treatment challenging.
The cognitive development of affected children is severely delayed, with most not surviving past the age of three.
The genetic diagnosis remains unclear and requires further research.
Prenatal diagnosis relies on accurate clinical diagnostic data of affected children for future application in prenatal stages.
In Taiwan, there are very few diagnostic experiences, primarily assisting couples with a family history of the condition through specialized imaging examinations.
The most experience in clinical diagnosis and prenatal diagnosis is found at Taipei Mackay Memorial Hospital and National Taiwan University Hospital.
The pediatric genetics department at Mackay Memorial Hospital, led by Dr.
Lin Hsuan-Pei, has been particularly involved in this area.
Reply Date: 2006/11/21
More Info
Galloway-Mowat Syndrome (GMS) is a rare genetic disorder characterized primarily by a combination of congenital kidney disease, microcephaly (small head size), and developmental brain abnormalities. It is classified as a recessive genetic disorder, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to manifest the disease. This syndrome is associated with distinctive facial features, and many affected children exhibit long, slender fingers and toes.
The clinical presentation of Galloway-Mowat Syndrome typically becomes apparent shortly after birth. Infants may show signs of nephrotic syndrome, which includes significant proteinuria (the presence of excess protein in urine), edema (swelling due to fluid retention), and hypertension (high blood pressure). These symptoms can lead to serious complications, including kidney failure, which may require dialysis or kidney transplantation.
In addition to renal issues, children with GMS often experience severe developmental delays and intellectual disabilities. The extent of cognitive impairment can vary significantly among affected individuals, but many do not achieve typical developmental milestones. Tragically, the prognosis for children with Galloway-Mowat Syndrome is often poor, with many not surviving past early childhood, typically before the age of three.
Genetic testing can confirm the diagnosis of Galloway-Mowat Syndrome, although the specific genetic mutations responsible for the condition are still being researched. Currently, there is no definitive cure for GMS, and treatment is primarily supportive. This may include managing kidney function, addressing developmental delays through early intervention programs, and providing supportive care to improve the quality of life for affected children.
For families with a history of Galloway-Mowat Syndrome, genetic counseling is highly recommended. This can help assess the risk of recurrence in future pregnancies and provide information about the implications of the disorder. Prenatal diagnosis may be possible in some cases, depending on the availability of genetic testing and the specific circumstances of the family.
In summary, Galloway-Mowat Syndrome is a complex and serious condition that requires a multidisciplinary approach for management. Families affected by this syndrome should work closely with healthcare providers, including pediatricians, nephrologists, geneticists, and developmental specialists, to ensure comprehensive care for their child. Support groups and resources for families dealing with rare diseases can also provide valuable emotional support and information.
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