eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | nephrocalcinosis |
| Comorbidity | C0004775|bartter syndrome |
| Sentences | 2 |
| PubMedID- 21431899 | A novel compound heterozygous romk mutation presenting as late onset bartter syndrome associated with nephrocalcinosis and elevated 1,25(oh)(2) vitamin d levels. |
| PubMedID- 20127383 | The patient, with renal salt loss, was thought to have classic bartter syndrome due to absence of nephrocalcinosis, presence of persistent hypercalciuria and sensorineural deafness, and presence of relatively mild clinical and laboratory findings, except polyuria initially. |
Page: 1