Finnish heritage disease
Finnish Heritage Disease
Finnish Heritage Disease (FHD), also known as Finnish Type Nephrotic Syndrome (FTNS), is a rare genetic disorder predominantly found in individuals of Finnish descent. Pronounced as "Finnish Heri-tage Dis-ease", the etymology of the term is derived from the high prevalence of the disease in the Finnish population.
Definition
Finnish Heritage Disease is a type of congenital nephrotic syndrome that typically presents in the first few months of life. It is characterized by heavy proteinuria, hypoalbuminemia, and edema. The disease is caused by mutations in the NPHS1 gene, which encodes for a protein called nephrin, essential for the normal function of the kidney's filtration barrier.
Symptoms
The primary symptoms of Finnish Heritage Disease include proteinuria, hypoalbuminemia, and edema. Other symptoms may include failure to thrive, recurrent infections, and in severe cases, renal failure.
Diagnosis
Diagnosis of Finnish Heritage Disease is typically made based on clinical findings, family history, and genetic testing. Genetic testing can confirm the presence of mutations in the NPHS1 gene.
Treatment
Treatment for Finnish Heritage Disease is primarily supportive and includes management of symptoms and complications. In severe cases, kidney transplantation may be necessary.
Prognosis
The prognosis for individuals with Finnish Heritage Disease varies. With early diagnosis and appropriate treatment, many individuals can lead normal lives. However, the disease can lead to significant morbidity and mortality if left untreated.
See Also
External links
- Medical encyclopedia article on Finnish heritage disease
- Wikipedia's article - Finnish heritage disease
This WikiMD article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski