Last reviewed: 28 Jun 2021
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  • outdated tetracycline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

Emerging tests

  • molecular genetic testing for hereditary distal RTA (type I)

Treatment algorithm

Contributors

Authors

Melvin E. Laski, MD

Professor Emeritus

Texas Tech University Health Sciences Center

Lubbock

TX

Disclosures

MEL declares that he has no competing interests.

Acknowledgements

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

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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