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Alport syndrome
From WikEM
Contents
Background
A syndrome that includes kidney disease, hearing loss, and eye abnormalities. The genetic disease classically also manifests with hematuria and proteinuria as the disease progresses to ESRD. The issues are related to a mutation in the COL4A5 (collagen) gene and are inherited in an X-linked pattern.[1]
Clinical Features
The degree of clinical features are related to the severity of the organ systems involved. Most common patient will have:
- Lower extremity edema due to the hyoalbuimemia
- Hematuria
- Hypertension
- Hearing Loss
- Visual problems
Differential Diagnosis
Hematuria
- Urologic (lower tract)
- Any location
- Iatrogenic/postprocedure
- GU trauma
- Infection
- Kidney stone
- Erosion or mechanical obstruction by tumor
- Ureter(s)
- Dilatation of stricture
- Bladder
- Transitional cell carcinoma
- Vascular lesions or malformations
- Chemical or radiation cystitis
- Prostate
- Benign prostatic hypertrophy
- Prostatitis
- Urethra
- Stricture
- Diverticulosis
- Foreign body
- Endometriosis (cyclic hematuria with menstrual pain)
- Any location
- Renal (upper tract)
- Glomerular
- Glomerulonephritis
- Immunoglobulin A nephropathy (Berger disease)
- Lupus nephritis
- Hereditary nephritis (Alport syndrome)
- Toxemia of pregnancy
- Serum sickness
- Erythema multiforme
- Nonglomerular
- Interstitial nephritis
- Pyelonephritis
- Papillary necrosis: sickle cell disease, diabetes, NSAID use
- Vascular: arteriovenous malformations, emboli, aortocaval fistula
- Malignancy
- Polycystic kidney disease
- Medullary sponge disease
- Tuberculosis
- Renal trauma
- Glomerular
- Hematologic
- Primary coagulopathy (e.g., hemophilia)
- Pharmacologic anticoagulation
- Sickle cell disease
- Myoglobinuria - positive blood, no RBCs: rhabdomyolysis
- Hemoglobinuria - positive blood, no RBCs
- TTP / HUS
- DIC
- Mechanical valve emergency
- Hemolytic anemia
- Paroxysmal Nocturnal Hemoglobinuria
- Miscellaneous
- Eroding abdominal aortic aneurysm
- Malignant hypertension
- Loin pain–hematuria syndrome
- Renal vein thrombosis
- Exercise-induced hematuria
- Cantharidin (Spanish fly) poisoning
- Stings/bites by insects/reptiles having venom with anticoagulant properties
- Schistosomiasis
- Sickle Cell Trait
Evaluation
Management
Disposition
See Also
External Links
References
- ↑ Kashtan CE. Familial hematurias: what we know and what we don't. Pediatr Nephrol. 2005 Aug;20(8):1027-35.
