Book chapter
Genetic Contributors to Kidney Stones in Children
Diagnosis and Management of Pediatric Nephrolithiasis
Springer International Publishing
23 Aug 2022
Abstract
Hereditary causes of nephrolithiasis are a group of rare diseases that carry significant morbidity and even mortality. They often go unrecognized or misdiagnosed and have the potential to cause progressive renal disease. Recurrent kidney stones or nephrocalcinosis in a prepubertal child should raise the concern about this group of diseases and any possible inborn errors of metabolism. Fortunately, early diagnosis and novel therapies can transform these hereditary diseases into manageable conditions and spare the patient progressive and often irreversible kidney damage. In this chapter, we review the epidemiology, pathophysiology, clinical presentation, diagnosis, and treatment of adenine phosphoribosyltransferase (APRT) deficiency, Dent disease, cystinuria, primary hyperoxaluria, and Lesch-Nyhan syndrome.
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Details
- Title
- Genetic Contributors to Kidney Stones in Children
- Creators
- German A Lozano Guzman - Drexel University, PediatricsJoshua J. Zaritsky - St. Christopher's Hospital for Children
- Publication Details
- Diagnosis and Management of Pediatric Nephrolithiasis
- Publisher
- Springer International Publishing; Cham
- Number of pages
- 12
- Resource Type
- Book chapter
- Language
- English
- Academic Unit
- Pediatrics
- Identifiers
- 991021863012704721