Review

Pediatric Nephrology

, Volume 28, Issue 10, pp 1923-1942

Hereditary causes of kidney stones and chronic kidney disease

  • Vidar O. EdvardssonAffiliated withThe Rare Kidney Stone ConsortiumChildren’s Medical Center, Landspitali - The National University Hospital of IcelandFaculty of Medicine, School of Health Sciences, University of Iceland Email author 
  • , David S. GoldfarbAffiliated withThe Rare Kidney Stone ConsortiumNephrology Section, NY Harbor VA Medical Center, and Division of Nephrology, NYU School of Medicine
  • , John C. LieskeAffiliated withThe Rare Kidney Stone ConsortiumMayo Clinic, Division of Nephrology and Hypertension, Department of Internal Medicine and Renal Function LaboratoryMayo Clinic, Department of Laboratory Medicine and Pathology
  • , Lada Beara-LasicAffiliated withThe Rare Kidney Stone ConsortiumNephrology Section, NY Harbor VA Medical Center, and Division of Nephrology, NYU School of Medicine
  • , Franca AnglaniAffiliated withThe Rare Kidney Stone ConsortiumDivision of Nephrology, Department of Medicine, University of Padua
  • , Dawn S. MillinerAffiliated withThe Rare Kidney Stone ConsortiumMayo Clinic Division of Nephrology, Departments of Pediatrics and Internal Medicine, Mayo Clinic Hyperoxaluria Center
  • , Runolfur PalssonAffiliated withThe Rare Kidney Stone ConsortiumFaculty of Medicine, School of Health Sciences, University of IcelandDivision of Nephrology, Internal Medicine Services, Landspitali – The National University Hospital of Iceland

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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.

Keywords

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