User:Mr. Ibrahem/Alport syndrome
| Alport syndrome | |
|---|---|
| Other names | Hereditary nephritis, familial nephritis[1] |
 | |
| Hearing loss in 13-year-old with Alport syndrome | |
| Symptoms | Blood in urine, protein in the urine, high blood pressure, swelling, abnormal lenses of the eye[2] |
| Complications | Kidney failure[2] |
| Types | X-linked, autosomal recessive, autosomal dominant[1] |
| Causes | Genetic mutation[1] |
| Diagnostic method | Suspected based on symptoms, confirmed by genetic testing or tissue biopsy[2] |
| Differential diagnosis | IgA nephropathy, polycystic kidney disease, medullary cystic disease, thin basement membrane disease[2] |
| Treatment | ACE inhibitors, dialysis, kidney transplant[2] |
| Frequency | 1 in 50,000 people[2] |
Alport syndrome, previously known as hereditary nephritis, is a genetic disorder characterized by kidney disease, hearing loss, and eye problems.[1] Blood in urine is the most common symptom.[2] Other symptoms may include protein in the urine, high blood pressure, swelling, abnormal lenses of the eye, and gradual onset of kidney failure.[2] Kidney failure may occur around 16 to 35 years of age.[2]
It may be inherited in an X-linked (65% of cases), autosomal recessive (15%), or autosomal dominant (20%) manner.[3][1] The underlying mechanism involve abnormal type IV collagen—a structural material in the body mainly found in the kidneys, ears, and eyes.[2] Diagnosis may be suspected based on symptoms and confirmed by genetic testing or tissue biopsy.[2]
Treatment involves trying to slow worsening of the disease, for which ACE inhibitors may be used.[2] Dialysis or kidney transplantation may be required for kidney failure.[2] Alport syndrome affects about 1 in 50,000 people at birth.[2] Males are more often symptomatic than females.[2] The disorder was first described in a British family by the physician Cecil A. Alport in 1927.[4][5]
References[edit]
- ^ a b c d e Kashtan, CE; Adam, MP; Ardinger, HH; Pagon, RA; Wallace, SE; Bean, LJH; Mirzaa, G; Amemiya, A (2019). "Alport Syndrome". GeneReviews. PMID 20301386.
- ^ a b c d e f g h i j k l m n o Watson, S; Padala, SA; Bush, JS (January 2020). "Alport Syndrome". PMID 29262041.
{{cite journal}}: Cite journal requires|journal=(help) - ^ "Alport Syndrome". NORD (National Organization for Rare Disorders). Retrieved 18 January 2021.
- ^ Alport AC (March 1927). "Hereditary familial congenital haemorrhagic nephritis". British Medical Journal. 1 (3454): 504–6. doi:10.1136/bmj.1.3454.504. JSTOR 25322864. PMC 2454341. PMID 20773074.
- ^ Wynbrandt, James; Ludman, Mark D. (2010). The Encyclopedia of Genetic Disorders and Birth Defects. Infobase Publishing. p. 157. ISBN 978-1-4381-2095-9.