Tubulopathy is a disease affecting the renal tubules of the nephron. Tubulopathic processes may be inflammatory or noninflammatory, though inflammatory... 7 KB (160 words) - 14:15, 8 November 2023 |
EAST syndrome (section Tubulopathy) the hearing nerve) and salt-wasting renal tubulopathy (salt loss caused by kidney problems). The tubulopathy (renal tubule abnormalities) in this condition... 14 KB (1,611 words) - 06:57, 26 July 2023 |
Kearns–Sayre syndrome (KSS), oculocraniosomatic disorder or oculocranionsomatic neuromuscular disorder with ragged red fibers is a mitochondrial myopathy... 26 KB (2,867 words) - 23:14, 29 March 2024 |
 | and elevated blood pH. It is the most frequent hereditary salt-losing tubulopathy. Gitelman syndrome is caused by disease-causing variants on both alleles... 27 KB (2,927 words) - 20:26, 17 February 2024 |
Proximal myotonic myopathy Proximal spinal muscular atrophy Proximal tubulopathy diabetes mellitus cerebellar ataxia Prune belly syndrome Prurigo nodularis... 24 KB (1,908 words) - 03:34, 11 January 2024 |
 | Reichold M, et al. (May 2009). "Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations". The New England Journal of Medicine. 360 (19):... 22 KB (2,007 words) - 01:49, 26 March 2024 |
 | (October 2011). "Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects". Pediatric Nephrology. 26 (10): 1789–1802... 11 KB (1,136 words) - 09:22, 30 January 2024 |
mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy". United States National Library of Medicine. Retrieved 12 July 2017... 101 KB (12,431 words) - 02:03, 28 March 2024 |
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;... 81 KB (10,827 words) - 12:54, 14 March 2024 |
 | Reichold M, et al. (May 2009). "Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations". The New England Journal of Medicine. 360 (19):... 52 KB (5,801 words) - 19:39, 1 April 2024 |
 | sponge kidney Neonatal nephrocalcinosis and loop diuretics Inherited tubulopathies Chronic hypokalemia Beta thalassemia Nephrocalcinosis is caused by an... 15 KB (1,574 words) - 03:40, 17 September 2023 |
oxalate nephropathy Bile cast nephropathy Myeloma cast nephropathy Renal tubulopathy Fibrillary glomerulonephritis Immunotactoid glomerulopathy Urate nephropathy... 8 KB (821 words) - 08:31, 9 October 2023 |
fibrils randomly arranged with thickness of 7-14 nm. Light chain proximal tubulopathy (LCPT) involves light chains with mutations of the hydrophobic residues... 14 KB (1,590 words) - 21:26, 19 February 2024 |
 | Mutations in the COX10 gene can result in numerous clinical phenotypes, from tubulopathy and leukodystrophy to Leigh syndrome to fatal infantile cardiomyopathy... 12 KB (1,374 words) - 10:30, 14 August 2023 |
 | mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy". United States National Library of Medicine. Retrieved 13 July 2017... 12 KB (1,504 words) - 20:38, 1 February 2024 |
 | PrEP was not significantly associated with tubulopathy over the course of 24 months, nor did tubulopathy predict clinically relevant eGFR decline. Adherence... 20 KB (1,963 words) - 05:57, 3 December 2023 |
 | vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation". Human Genetics. 126 (4): 533–538... 69 KB (6,804 words) - 04:42, 27 April 2024 |
 | retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness, exercise intolerance, lactic acidosis, hypotonia, seizures... 17 KB (1,917 words) - 14:47, 26 January 2024 |
| retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. In addition, mutations in... 11 KB (1,329 words) - 15:54, 25 December 2023 |
 | optic neuropathy, muscle weakness, myoglobinuria, blood acidosis, renal tubulopathy, and more. Complex III deficiency is known to be rare among mitochondrial... 15 KB (1,863 words) - 05:33, 3 December 2023 |
 | optic neuropathy, muscle weakness, myoglobinuria, blood acidosis, renal tubulopathy, and more. Complex III deficiency is known to be rare among mitochondrial... 13 KB (1,442 words) - 23:50, 16 October 2022 |
phosphate diabetes is a condition that falls under the category of tubulopathies, which refers to the pathologies of the renal tubules. The mutated PHEX... 23 KB (2,641 words) - 01:51, 11 December 2023 |
 | K+ channels can display Epilepsy, Ataxia, Sensorineural deafness and Tubulopathy, the EAST syndrome (Gitelman syndrome phenotype) reflecting roles for... 12 KB (1,324 words) - 08:48, 8 November 2023 |
 | retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness, exercise intolerance, lactic acidosis and hypoglycemia... 8 KB (1,000 words) - 13:38, 22 July 2023 |
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy; 612075; RRM2B Mitochondrial DNA depletion syndrome, hepatocerebral form;... 234 KB (18,877 words) - 12:36, 2 April 2024 |
retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. Pathogenic Mutations of the... 8 KB (1,008 words) - 07:27, 10 March 2024 |
 | 7 Complex III deficiency, including neonatal lactic acidosis, renal tubulopathy, and severe intrauterine growth retardation. Additional clinical features... 9 KB (1,051 words) - 00:10, 30 November 2023 |