Hereditary causes of kidney stones and chronic kidney disease

Vidar O. Edvardsson, David S. Goldfarb, John C. Lieske, Lada Beara-Lasic, Franca Anglani, Dawn S. Milliner, Runolfur Palsson

Research output: Contribution to journalReview articlepeer-review

120 Scopus citations


Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and primary hyperoxaluria (PH) are rare but important causes of severe kidney stone disease and/or chronic kidney disease in children. Recurrent kidney stone disease and nephrocalcinosis, particularly in pre-pubertal children, should alert the physician to the possibility of an inborn error of metabolism as the underlying cause. Unfortunately, the lack of recognition and knowledge of the five disorders has frequently resulted in an unacceptable delay in diagnosis and treatment, sometimes with grave consequences. A high index of suspicion coupled with early diagnosis may reduce or even prevent the serious long-term complications of these diseases. In this paper, we review the epidemiology, clinical features, diagnosis, treatment, and outcome of patients with APRT deficiency, cystinuria, Dent disease, FHHNC, and PH, with an emphasis on childhood manifestations.

Original languageEnglish (US)
Pages (from-to)1923-1942
Number of pages20
JournalPediatric Nephrology
Issue number10
StatePublished - Oct 2013


  • 2,8-dihydroxyadeninuria
  • Adenine phosphoribosyltransferase deficiency
  • Crystalline nephropathy
  • Cystinuria
  • Dent disease
  • Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
  • Hereditary disorders
  • Kidney failure
  • Nephrocalcinosis
  • Nephrolithiasis
  • Primary hyperoxaluria

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Nephrology


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