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 journalArticle

97 Citations (Scopus)

Abstract

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
Volume28
Issue number10
DOIs
StatePublished - Oct 2013

Fingerprint

Dent Disease
Primary Hyperoxaluria
Cystinuria
Kidney Calculi
Kidney Diseases
Chronic Renal Insufficiency
Nephrocalcinosis
Inborn Errors Metabolism
Early Diagnosis
Epidemiology
Physicians
Hypomagnesemia primary
Adenine phosphoribosyltransferase deficiency
Therapeutics

Keywords

  • 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

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

Cite this

Edvardsson, V. O., Goldfarb, D. S., Lieske, J. C., Beara-Lasic, L., Anglani, F., Milliner, D. S., & Palsson, R. (2013). Hereditary causes of kidney stones and chronic kidney disease. Pediatric Nephrology, 28(10), 1923-1942. https://doi.org/10.1007/s00467-012-2329-z

Hereditary causes of kidney stones and chronic kidney disease. / Edvardsson, Vidar O.; Goldfarb, David S.; Lieske, John C; Beara-Lasic, Lada; Anglani, Franca; Milliner, Dawn S.; Palsson, Runolfur.

In: Pediatric Nephrology, Vol. 28, No. 10, 10.2013, p. 1923-1942.

Research output: Contribution to journalArticle

Edvardsson, VO, Goldfarb, DS, Lieske, JC, Beara-Lasic, L, Anglani, F, Milliner, DS & Palsson, R 2013, 'Hereditary causes of kidney stones and chronic kidney disease', Pediatric Nephrology, vol. 28, no. 10, pp. 1923-1942. https://doi.org/10.1007/s00467-012-2329-z
Edvardsson VO, Goldfarb DS, Lieske JC, Beara-Lasic L, Anglani F, Milliner DS et al. Hereditary causes of kidney stones and chronic kidney disease. Pediatric Nephrology. 2013 Oct;28(10):1923-1942. https://doi.org/10.1007/s00467-012-2329-z
Edvardsson, Vidar O. ; Goldfarb, David S. ; Lieske, John C ; Beara-Lasic, Lada ; Anglani, Franca ; Milliner, Dawn S. ; Palsson, Runolfur. / Hereditary causes of kidney stones and chronic kidney disease. In: Pediatric Nephrology. 2013 ; Vol. 28, No. 10. pp. 1923-1942.
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