Molecular developments in renal tubulopathies
Open Access
- 1 September 2000
- journal article
- review article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 83 (3) , 189-191
- https://doi.org/10.1136/adc.83.3.189
Abstract
Many children with genetic defects in tubular function present in infancy although there are several, less severe disorders that present later or may be asymptomatic (for example, Gitelman's syndrome) and may only be detected when the patient has a blood or urine sample taken as part of a routine assessment. As a result the true incidence of some of these defects is not known. Many tubulopathies lead to failure to thrive; those causing chronic dehydration, salt wasting, or acidosis will inevitably impair growth, while excessive phosphate wastage will lead to rickets and retard bone development. Children with renal stones or who are found to have nephrocalcinosis require investigation of their tubular function.Keywords
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