Last reviewed: June 2020
Last updated: March  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  • outdated tetracycline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
More 1st investigations to order

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
More investigations to consider

Emerging tests

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

Treatment algorithm

Contributors

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.

Peer reviewersVIEW ALL

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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