Last reviewed: 19 Dec 2020
Last updated: 18 Mar 2020
Summary
Definition
History and exam
Key diagnostic factors
- presence of risk factors
- growth retardation
- muscular weakness
- failure to thrive (children)
- hypoglycaemia after fructose ingestion
- rickets
- ethnicity/national origin
- nephrolithiasis
Other diagnostic factors
- sensorineural hearing loss
- liver dysfunction
- osteopenia, osteopetrosis, nephrocalcinosis, and cerebral calcifications
- nephrocalcinosis
- Kussmaul's breathing
- ocular abnormalities (cataracts, glaucoma, band keratopathy), growth retardation, impaired intellect, calcification of basal ganglia
Risk factors
- childhood
- urinary tract obstruction
- diabetes mellitus
- primary biliary cirrhosis
- nephrocalcinosis
- nephrolithiasis
- amphotericin-B therapy
- toxic exposure to heavy metals, and cis-platinum
- untreated adrenal insufficiency
- environmental exposure in the Balkans
- older men
- family history of inherited RTA
- hereditary fructose intolerance
- Wilson's disease
- galactosaemia
- disorders of mitochondrial metabolism
- glycogen storage diseases
- tyrosinaemia
- Lowe's syndrome
- lead exposure
- cadmium exposure
- ifosfamide therapy
- cystinosis
- cyclosporine therapy
- angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blocking drugs
- heparin therapy
- medications interfering with sodium transport
- use of carbonic anhydrase inhibitors
- abnormalities of filtered immunoglobulins
- interstitial nephritis
- hyperparathyroidism
- Thai or southeast Asian ancestry
- outdated tetracycline
- cis-platinum therapy
- toluene, paraquat, lysol exposure
- Balkan heritage
- Dent's disease
- ibuprofen overdose
- lamivudine
- antiviral therapy (cidofovir, adefovir, or tenofovir)
Diagnostic investigations
1st investigations to order
- serum bicarbonate
- serum chloride
- serum sodium
- serum potassium
- arterial blood pH
- serum anion gap
- urine pH
Investigations to consider
- serum aldosterone
- urine anion gap
- measurement of fractional bicarbonate excretion
- urine PCO2 bicarbonate infusion
- furosemide test
- ammonium chloride loading test
- furosemide and fludrocortisone test
- urine glucose
- tubular maximum (Tm) reabsorption of phosphate
- fractional excretion of amino acids
- ultrasound
- CT/spiral CT
- nuclear renal scan
Treatment algorithm
Contributors
Authors
Professor Emeritus
Texas Tech University Health Sciences Center
Lubbock
TX
Disclosures
MEL declares that he has no competing interests.
Dr Melvin E. Laski would like to gratefully acknowledge Dr Elizabeth Cobb, Dr Rebin Titus, and Dr Abeer Kaldas, previous contributors to this topic.
Disclosures
EC and AK declare that they have no competing interests; RT's competing interests are not disclosed.
Peer reviewers
Professor
Northwestern University
Evanston
IL
Disclosures
DB declares that he has no competing interests.
Department of Nephrology
Aalborg Hospital
Aalborg
Denmark
Disclosures
TR declares that he has no competing interests.
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