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Hereditary causes of kidney stones and chronic kidney disease
Vidar O Edvardsson1, David S Goldfarb, John C Lieske
1The Rare Kidney Stone Consortium, Mayo Clinic, Rochester, MN, USA. vidare@landspitali.is
Insights
Rare inborn errors of metabolism like APRT deficiency and primary hyperoxaluria cause severe kidney disease in children. Early diagnosis of these genetic kidney stone disorders is crucial to prevent serious complications.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Inborn Errors of Metabolism
Background:
- Rare genetic disorders are significant causes of pediatric kidney stone disease and chronic kidney disease.
- Conditions include Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and primary hyperoxaluria (PH).
- Delayed diagnosis of these metabolic disorders can lead to severe, irreversible kidney damage.
Purpose of the Study:
- To review the epidemiology, clinical features, diagnosis, treatment, and outcomes of five rare genetic kidney stone disorders in children.
- To emphasize the importance of early recognition and diagnosis in pediatric patients.
- To provide a comprehensive overview for clinicians managing these complex cases.
Main Methods:
- Literature review focusing on pediatric manifestations of APRT deficiency, cystinuria, Dent disease, FHHNC, and PH.
- Analysis of epidemiological data, clinical presentations, diagnostic criteria, therapeutic strategies, and patient outcomes.
- Synthesis of current knowledge regarding the management of these rare kidney diseases.
Main Results:
- Recurrent kidney stones and nephrocalcinosis in young children warrant investigation for inborn errors of metabolism.
- Lack of awareness contributes to diagnostic delays and adverse outcomes.
- Early suspicion and diagnosis are key to mitigating long-term complications.
Conclusions:
- Prompt identification of metabolic causes for kidney disease in children is essential.
- A high index of suspicion can significantly improve patient outcomes.
- Effective management requires a thorough understanding of these rare genetic conditions.
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.
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