September 10, 2025Nephrology (Saint-Petersburg)

Clinical and genotypic features, renal prognosis of orphan tubulopathies with nephrocalcinosis and cystin stones in children

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Chronic kidney disease progressed from C1 to C4 in 5 of 22 children with nephrocalcinosis and cystinuria, highlighting the urgency of intervention.
Primary hyperoxaluria types I, II, and III were confirmed in 5 children, alongside cystinuria and other genetic conditions observed.
Genetic testing identified mutations linked to orphan tubulopathies in all children with nephrocalcinosis, underscoring the need for personalized treatment strategies.
Molecular genetic diagnostic methods revealed distinct gene mutation variants contributing to various clinical phenotypes in this pediatric cohort.

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Implication

Genetic study finds chronic kidney disease progression in pediatric patients with nephrocalcinosis and cystinuria, indicating urgent management needs.

Cite This Study

Prokofeva et al. (2025) studied this question.

synapsesocial.com/papers/68c23b4ab210217d64784da9 https://doi.org/10.36485/1561-6274-2025-29-3-77-86

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Implication

Genetic study finds chronic kidney disease progression in pediatric patients with nephrocalcinosis and cystinuria, indicating urgent management needs.

Clinical and genotypic features, renal prognosis of orphan tubulopathies with nephrocalcinosis and cystin stones in children

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Discussion

Implication

Cite This Study

Clinical and genotypic features, renal prognosis of orphan tubulopathies with nephrocalcinosis and cystin stones in children

Key Points

Discussion

Implication

Cite This Study

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