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Neuregulin 1 gene fusion positive non small cell lung cancer (NRG1+ NSCLC) is a rare molecular subtype of NSCLC that involves the fusion of the NRG1 gene with various partner genes. This fusion leads to aberrant signaling in the HER3 (ERBB3) pathway, contributing to uncontrolled tumor growth and progression. Although NRG1 fusions are found in
Nesidioblastosis is a rare pancreatic disorder characterized by the abnormal proliferation of insulin-producing beta cells, leading to persistent hyperinsulinemic hypoglycemia (PHH). This condition primarily affects newborns and infants, though cases in adults have been reported. It is closely related to congenital hyperinsulinism (CHI), a severe endocrine disorder that causes uncontrolled insulin secretion, resulting in frequent
Nephrotic syndrome is a clinical condition marked by heavy proteinuria (≥3.5 g/day), hypoalbuminemia, hyperlipidemia, and peripheral edema. It signifies a disturbance in the glomerular filtration barrier, primarily affecting the kidneys’ ability to retain proteins, particularly albumin. The syndrome is not a single disease but a manifestation of various underlying pathologies, both primary and secondary. Pathophysiology
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by the abnormal accumulation of the amino acid cystine within cells. This accumulation is caused by mutations in the CTNS gene, which encodes the lysosomal cystine transporter, cystinosin. The disease primarily affects the kidneys but can extend to multiple organ systems, leading to severe
Nephrogenic diabetes insipidus (NDI) is a rare kidney disorder characterized by the inability of the kidneys to concentrate urine, leading to excessive urination (polyuria) and extreme thirst (polydipsia). Unlike central diabetes insipidus, which results from deficient antidiuretic hormone (ADH) production, NDI occurs when the kidneys do not respond properly to ADH (vasopressin). This resistance causes
Neovascular age-related macular degeneration (nAMD), also known as wet AMD, is a progressive eye disease that primarily affects the macula, the central part of the retina responsible for sharp vision. It is characterized by abnormal blood vessel growth (choroidal neovascularization) beneath the retina, leading to fluid leakage, hemorrhage, and eventual vision loss. Unlike dry AMD,
A neoplasm of the brain, also referred to as a brain tumor, is an abnormal growth of cells within the brain or central nervous system (CNS). These tumors can be benign (non-cancerous) or malignant (cancerous) and may arise from brain tissues (primary tumors) or spread from cancers located in other parts of the body (secondary
Neoplasms Associated with von Hippel Lindau Disease: Von Hippel-Lindau (VHL) disease is a rare, autosomal dominant hereditary cancer syndrome characterized by the development of benign and malignant tumors in multiple organ systems. This multisystem disorder arises due to germline mutations in the VHL tumor suppressor gene located on chromosome 3p25.3, which plays a critical role
Neonates at High Risk of Infection: Neonates, particularly those born preterm or under compromised maternal conditions, are highly susceptible to infections due to immature immune responses and exposure to pathogenic organisms during or after delivery. Infections in this population can rapidly progress to sepsis, meningitis, or pneumonia, requiring vigilant screening, prompt intervention, and robust infection
Neonatal thyrotoxicosis is a rare but potentially life-threatening endocrine disorder in newborns, characterized by excessive thyroid hormone levels within the first month of life. Most commonly, it results from transplacental passage of thyroid-stimulating immunoglobulins (TSIs) from mothers with Graves’ disease. Prompt recognition and treatment are essential to prevent serious complications, including heart failure and developmental