Abstract
Genetics plays an important role in establishing susceptibility to nephrolithiasis, although diet and other environmental factors make major contributions. In a small number of patients, the genetic causes of stones are more clearly established. Four of these hereditary diseases include primary hyperoxaluria, Dent disease, cystinuria, and adenine phosphoribosyltransferase deficiency, which results in 2,8-dihydroxyadenine stones. Patients with these disorders often experience recurring stones from early childhood, requiring frequent hospitalizations and procedures. They are at risk of kidney damage and chronic kidney disease. Because of their rarity, these four disorders are difficult to study and recognize. This in turn slows progress toward effective therapies and increases the risk of misdiagnosis or diagnosis late in the course of the disease. Therefore, patients may experience unnecessary and harmful treatments and accelerated loss of kidney function. In this article, we will review the pathogenesis, clinical presentation, diagnosis of and treatments for these four disorders.
| Original language | English |
|---|---|
| Pages (from-to) | 2-18 |
| Number of pages | 17 |
| Journal | Clinical Reviews in Bone and Mineral Metabolism |
| Volume | 10 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Mar 2012 |
Bibliographical note
Funding Information: Acknowledgments The authors gratefully acknowledge support of the Rare Kidney Stone Consortium (U54KD083908), a part of NIH Rare Diseases Clinical Research Network (RDCRN), funded by the NIDDK and the NIH Office of Rare Diseases Research (ORDR). The Mayo Clinic O’Brien Urology Research Center (P50 DK083007) is funded by the NIDDK. The support of the Oxalosis and Hyperoxal-uria Foundation, and the Mayo Clinic Hyperoxaluria Center, is also appreciated, as is the support of the International Cystinuria Foundation and the Cystinuria Support Network. The authors thank Rachel Miller of the Mayo Renal Testing Laboratory for the image of urinary cystine crystals and G. Steinunn Oddsdottir, of the Departments of Laboratory Hematology and Clinical Biochemistry, Landspitali University Hospital, and Hrafnhildur Runolfsdottir, Medical Student, Faculty of Medicine, School of Health Sciences, University of Iceland, for the images of urinary DHA crystals. We also want to thank Lynn Cornell, M.D., Consultant, Division of Anatomic Pathology and Assistant Professor of Laboratory Medicine and Pathology, Mayo Clinic, Rochester Minnesota, for providing the renal pathology photomicrograph.Other keywords
- Adenine phosphoribosyltransferase deficiency
- Cystinuria
- Dent disease
- Dihydroxyadenine
- Nephrolithiasis
- Primary hyperoxaluria
- Urolithiasis
