-
Tubulopathy is a
disease affecting the
renal tubules of the nephron.
Tubulopathic processes may be
inflammatory or noninflammatory,
though inflammatory...
- the
hearing nerve) and salt-wasting
renal tubulopathy (salt loss
caused by
kidney problems). The
tubulopathy (renal
tubule abnormalities) in this condition...
- Kearns–Sayre
syndrome (KSS),
oculocraniosomatic disorder or
oculocranionsomatic neuromuscular disorder with
ragged red
fibers is a
mitochondrial myopathy...
- and
elevated blood pH. It is the most
frequent hereditary salt-losing
tubulopathy.
Gitelman syndrome is
caused by disease-causing
variants on both alleles...
-
Proximal myotonic myopathy Proximal spinal muscular atrophy Proximal tubulopathy diabetes mellitus cerebellar ataxia Prune belly syndrome Prurigo nodularis...
-
Reichold M, et al. (May 2009). "Epilepsy, ataxia,
sensorineural deafness,
tubulopathy, and KCNJ10 mutations". The New
England Journal of Medicine. 360 (19):...
-
mitochondrial DNA
depletion syndrome,
encephalomyopathic form with
renal tubulopathy".
United States National Library of Medicine.
Retrieved 12 July 2017...
-
selectively in the kidney's
proximal tubule to
cause light chain proximal tubulopathy or in the kidney's
distal tubule to
cause light chain myeloma cast nephropathy;...
- (October 2011). "Bartter- and Gitelman-like syndromes: salt-losing
tubulopathies with loop or DCT defects".
Pediatric Nephrology. 26 (10): 1789–1802...
-
Reichold M, et al. (May 2009). "Epilepsy, ataxia,
sensorineural deafness,
tubulopathy, and KCNJ10 mutations". The New
England Journal of Medicine. 360 (19):...
