TY - JOUR
T1 - Hereditary causes of kidney stones and chronic kidney disease
AU - Edvardsson, Vidar O.
AU - Goldfarb, David S.
AU - Lieske, John C.
AU - Beara-Lasic, Lada
AU - Anglani, Franca
AU - Milliner, Dawn S.
AU - Palsson, Runolfur
N1 - Funding Information:
To facilitate early recognition and treatment of rare causes of kidney stones and CKD and to advance scientific knowledge in this field, the authors of this paper recently formed the RKSC ( rarekidneystones.org and rarediseasesnetwork.epi.usf.edu/RKSC/index.htm ) with support from the National Institute of Diabetes and Digestive and Kidney Diseases and The Office of Rare Diseases Research at the National Institutes of Health. This approach is analogous to current strategies in other rare diseases and has been supported by healthcare authorities both in Europe and the US.
Funding Information:
The authors gratefully acknowledge the support of the Rare Kidney Stone Consortium (U54KD083908), a part of the National Institutes of Health (NIH) Rare Diseases Clinical Research Network (RDCRN), funded by the NIDDK, and the NIH Office of Rare Diseases Research (ORDR) and the Mayo Clinic O’Brien Urology Research Center (P50 DK083007) funded by the NIDDK. We thank Rachel Miller of the Mayo Clinic Renal Function Laboratory for photomicrographs of cystine, calcium oxalate, and calcium phosphate crystals, and Hrafnhildur L. Runolfsdottir, a medical student at the University of Iceland, Reykjavik, Iceland, for generating the images of urinary DHA crystals. The authors also thank members of the Rare Kidney Stone Consortium for critical feedback during construction of the diagnostic algorithms (Figs. , , , and ).
PY - 2013/10
Y1 - 2013/10
N2 - 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.
AB - 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.
KW - 2,8-dihydroxyadeninuria
KW - Adenine phosphoribosyltransferase deficiency
KW - Crystalline nephropathy
KW - Cystinuria
KW - Dent disease
KW - Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
KW - Hereditary disorders
KW - Kidney failure
KW - Nephrocalcinosis
KW - Nephrolithiasis
KW - Primary hyperoxaluria
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U2 - 10.1007/s00467-012-2329-z
DO - 10.1007/s00467-012-2329-z
M3 - Review article
C2 - 23334384
AN - SCOPUS:84883289608
SN - 0931-041X
VL - 28
SP - 1923
EP - 1942
JO - Pediatric Nephrology
JF - Pediatric Nephrology
IS - 10
ER -