Congenital nephrotic syndrome
Congenital Nephrotic Syndrome is a rare kidney disorder that is present at birth. It is characterized by a high level of protein in the urine (proteinuria), low levels of protein in the blood (hypoalbuminemia), and swelling in the body tissues (edema).
Causes[edit | edit source]
Congenital Nephrotic Syndrome is usually caused by genetic mutations. The most common cause is a mutation in the NPHS1 gene, which provides instructions for making a protein called nephrin. Nephrin is found in the kidneys and is essential for the normal function of the glomeruli, the tiny blood vessels in the kidneys that filter waste from the blood. Mutations in the NPHS1 gene disrupt the normal function of the glomeruli, leading to the symptoms of Congenital Nephrotic Syndrome.
Other genes that have been associated with Congenital Nephrotic Syndrome include the WT1 gene, the LAMB2 gene, and the PLCE1 gene. Mutations in these genes can also disrupt the normal function of the glomeruli.
Symptoms[edit | edit source]
The main symptoms of Congenital Nephrotic Syndrome are proteinuria, hypoalbuminemia, and edema. Other symptoms can include poor growth, frequent infections, and a higher risk of blood clots.
Diagnosis[edit | edit source]
Diagnosis of Congenital Nephrotic Syndrome is usually based on the symptoms, particularly the presence of proteinuria, hypoalbuminemia, and edema. Genetic testing can confirm the diagnosis and identify the specific gene mutation causing the disorder.
Treatment[edit | edit source]
Treatment for Congenital Nephrotic Syndrome is aimed at managing the symptoms and preventing complications. This can include medications to reduce proteinuria and edema, dietary changes to increase protein intake, and in some cases, kidney transplantation.
Prognosis[edit | edit source]
The prognosis for individuals with Congenital Nephrotic Syndrome varies depending on the specific gene mutation and the severity of the symptoms. With appropriate treatment, many individuals with this disorder can lead normal lives.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Congenital nephrotic syndrome is a rare disease.
| Congenital nephrotic syndrome Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
