Summary
Definition
History and exam
Other diagnostic factors
- fatigue
- breathlessness
- peripheral edema
- hypertension
- foamy-appearing urine
- visual disturbance
- learning disability
- dysphagia
- cough or recurrent bronchitis
- growth retardation
- menorrhagia
- irregular firm central pelvic mass
Risk factors
- family history of Alport syndrome
- family history of thin basement membrane nephropathy
- family history of microscopic hematuria
- microscopic hematuria
Diagnostic investigations
1st investigations to order
- CBC
- metabolic panel
- fasting lipid panel
- urinalysis
- serum intact PTH
- audiometry
- ophthalmoscopy
- renal ultrasound
- renal biopsy
- ECG
Investigations to consider
- molecular genetic testing
- skin biopsy
- echocardiogram
Treatment algorithm
Contributors
Authors
University Reader in Renal Genetics
Honorary Consultant in Medical Genetics
Academic Laboratory of Medical Genetics
University of Cambridge
Addenbrooke's Treatment Centre
Addenbrooke's Hospital
Cambridge
UK
Disclosures
RNS has served as an advisory board member and paid speaker for Otsuka Pharmaceuticals. RNS has had research grants and speakers' fees paid to the University of Cambridge from Otsuka Pharmaceuticals and Intercept Pharmaceuticals.
Peer reviewers
Professor
Department of Pediatrics
University of Minnesota Medical School
Minneapolis
MN
Disclosures
CK declares that he has no competing interests.
Emeritus Director of Research
Institut National de la Santé et de la Recherche Médicale
INSERM U574
Hôpital Necker-Enfants Malades
and Université Paris Descartes
Paris
France
Disclosures
MCG declares that she has no competing interests.
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