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The observed reduction of NaPi IIa in GPRC6A−/− mice and the low molecular weight proteinuria is consistent with a primary proximal tubular defect.
Thus, the initial biological profile was in favor of a proximal tubular defect.
This transient tubular defect may be related to a direct toxic effect of eosinophils.
Individuals with EAST syndrome also suffer from a renal tubular defect resulting in hypokalemic metabolic alkalosis and hypomagnesemia.
Therefore, patients with hypoparathyroidism, hyperparathyroidism, chronic renal tubular defect, alcoholic ketoacidosis, diabetic ketoacidosis and persistent respiratory alkalosis were excluded from the study.
In conclusion, given the range of phenotypic expression in the salt-losing tubulopathies, genetic testing is the only method capable of confirming the precise nature of the underlying tubular defect.
Similar(50)
In sharp contrast to the similarities of tubular defects, γCOP mutant embryos fail to complete dorsal closure while sar1 mutants close normally (data not shown).
No patients had enteropathy or renal tubular defects.
Patients with pSS TIN present with significant renal impairment and frequent tubular defects.
Patients with pSS TIN have significant renal impairment and other functional tubular defects.
We would advocate renal biopsy in all patients with pSS and tubular defects to confirm the diagnosis of TIN, and to distinguish from other potential causes of localised tubular defects (eg. the presence of light chain).
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