ArticleClinical kidney journal2022
Genetic evaluation of paediatric nephrocalcinosis: phenotype-driven genetic panels reveal a rare diagnosis.
Article in Clinical kidney journal, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 1 citations in OpenAlex.
- Molecular and Genetic Determinants of Nephrocalcinosis: Mechanisms, Genotype-Phenotype Correlations, and Precision Medicine.International journal of molecular sciences · 2026Review
- Beyond expensive innovations: affordable and effective strategies for managing tubulopathies in adults.Clinical kidney journal · 2026Review
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
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Abstract
Monogenic causes of paediatric nephrocalcinosis are associated with extensive phenotypic variability. We report a 14-year-old male who presented at 8 years of age with incidentally identified nephrocalcinosis alongside growth impairment and dental anomalies. Extensive genetic investigation confirmed a molecular diagnosis of Bartter syndrome type II. This is exceptional in both late presentation and the presence of amelogenesis imperfecta, a very rare association of inherited tubulopathies. Details of the nephrocalcinosis gene panel analysed and associated phenotypes are presented to highlight the utility of a phenotype-driven genetic panel in resolving an atypical presentation of nephrocalcinosis, allowing precise diagnosis, tailored therapy and prognostication.
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