Last reviewed: 1 Nov 2024
Last updated: 21 Dec 2021
Summary
Definition
History and exam
Key diagnostic factors
- growth retardation
- muscular weakness
- failure to thrive (children)
- hypoglycemia after fructose ingestion
- rickets
- ethnicity/national origin
- nephrolithiasis
Full details
Other diagnostic factors
- sensorineural hearing loss
- liver dysfunction
- osteopenia, osteopetrosis, nephrocalcinosis, and cerebral calcifications
- nephrocalcinosis
- Kussmaul breathing
- ocular abnormalities (cataracts, glaucoma, band keratopathy), growth retardation, impaired intellect, and calcification of basal ganglia
Full details
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 primary adrenal insufficiency
- family history of inherited RTA
- older men
- hereditary fructose intolerance
- Wilson disease
- galactosemia
- disorders of mitochondrial metabolism
- glycogen storage diseases
- tyrosinemia
- Lowe 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
- environmental exposure to aristolochic acid
- Thai or southeast Asian ancestry
- cis-platinum therapy
- toluene, paraquat, lysol exposure
- Dent disease
- ibuprofen overdose
- lamivudine
- antiviral therapy (cidofovir, adefovir, or tenofovir)
- programmed cell death protein 1 (PD-1)-inhibitors
Full details
Diagnostic tests
1st tests to order
- serum bicarbonate
- serum chloride
- serum sodium
- serum potassium
- arterial blood pH
- serum anion gap
- urine pH
Full details
Tests 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
Full details
Emerging tests
- molecular genetic testing for hereditary distal RTA (type I)
Treatment algorithm
ONGOING
classic distal RTA (type I)
proximal RTA (type II) including Fanconi syndrome
mixed proximal and distal DTA (type III)
hyperkalemic distal RTA (type IV) + mineralocorticoid deficiency
hyperkalemic distal RTA (type IV) + mineralocorticoid-resistant
Contributors
Authors
Ashish Verma, MBBS
Assistant Professor of Medicine
Section of Nephrology
Department of Medicine
Boston University School of Medicine/Boston Medical Center
Boston
MA
Disclosures
AV declares that he has no competing interests.
Acknowledgements
Dr Ashish Verma would like to gratefully acknowledge Dr Melvin E. Laski, Dr Elizabeth Cobb, Dr Rebin Titus, and Dr Abeer Kaldas, previous contributors to this topic.
Disclosures
MEL, EC, and AK declare that they have no competing interests; RT's competing interests are not disclosed.
Peer reviewers
Daniel Batlle, MD
Professor
Northwestern University
Evanston
IL
Disclosures
DB declares that he has no competing interests.
Troels Ring, MD
Department of Nephrology
Aalborg Hospital
Aalborg
Denmark
Disclosures
TR declares that he has no competing interests.
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