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1,929 Possible Causes for Mutations in the Cystinosis Gene, Nephrolithiasis, Subsarcolemmal Accumulation of Normal Mitochondria

  • Juvenile Cystinosis

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Genatlas disease for CTNS Gene cystinosis,infantile,nephropathic type Additional Disease Information for CTNS A novel gene encoding an integral membrane protein is mutated[genecards.org] Abstract Purpose In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years.[revistanefrologia.com]

  • Cystinosis

    Patients with less severe cystinosis gene mutations tend to have better kidney outcome.[cjasn.asnjournals.org] Associated with nephrolithiasis (renal stones) [2] and renal failure.[librepathology.org] Imaging features are non-specific and may include: rickets renal medullary nephrocalcinosis nephrolithiasis Treatment and prognosis The mainstay of treatment is cystine-depleting[radiopaedia.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Urinary Tract Disease

    ., papillary necrosis, nephrolithiasis, neurogenic bladder) and the management of comorbidities with Foley catheters and intravenous lines.[cjasn.asnjournals.org] CD001322 47 Pass the cranberry juice, Nursing Times, 1991, vol. 87 (pg. 36 - 7 ) 48 Dietary supplementation with cranberry concentrate tablets may increase the risk of nephrolithiasis[cid.oxfordjournals.org] Terms used to describe stones include nephrolithiasis (kidney stones), urolithiasis (urinary tract stones) and ureterolithiasis (ureter stones).[healthywomen.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Primary Hyperoxaluria

    Type 1 hyperoxaluria ( 1-9/1000000, ORPHA93598) is induced by a liver peroxisomal deficiency secondary to alanine glyoxylate aminotransferase gene mutations [ 53 ].[ojrd.biomedcentral.com] Patients typically present with recurrent nephrolithiasis and nephrocalcinosis.[ncbi.nlm.nih.gov] PURPOSE: Genetic causes of nephrolithiasis are underestimated.[ncbi.nlm.nih.gov]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Cystinuria

    Hereditary cystinosis is an autosomal recessive disorder caused by mutations in the CTNS gene, which encodes a lysosomal transporter of the amino acid cystine.[renalfellow.blogspot.com] We present a case of cystinuria that has been managed for 1 year on captopril, with elimination of recurrent nephrolithiasis and with no observable morbidity.[ncbi.nlm.nih.gov] Cystinuria is an autosomal recessive hereditary disorder associated with nephrolithiasis and its attendant complications.[ncbi.nlm.nih.gov]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Hereditary Neonatal Hyperparathyroidism

    Type 1 hyperoxaluria ( 1-9/1000000, ORPHA93598) is induced by a liver peroxisomal deficiency secondary to alanine glyoxylate aminotransferase gene mutations [ 53 ].[ojrd.biomedcentral.com] nephrolithiasis have hyperparathyroidism.[enotes.tripod.com] Nephrolithiasis and bone involvement in primary hyperparathyroidism. Am J Med 1990 ; 89 : 327 –34. Garcia de la Torre N, Wass J, Turner H.[jmg.bmj.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Urinary Tract Infection

    Probiotics and dietary manipulations in calcium oxalate nephrolithiasis: two sides of the same coin? Kidney Int. 78, 1063–1065 (2010). 91. Sidhu, H. et al.[doi.org] Thus, asymptomatic bacteriuria was found in 23% of women with cystocele, 57% of patients with congenital urologic disease, 85% of patients with hydronephrosis and nephrolithiasis[web.archive.org] Effects of Lactobacillus casei and Bifidobacterium breve on urinary oxalate excretion in nephrolithiasis patients. Urol. Res. 37, 95–100 (2009). 98. Goldfarb, D.[doi.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Hyporeninemic Hypoaldosteronism

    Hereditary cystinosis is an autosomal recessive disorder caused by mutations in the CTNS gene, which encodes a lysosomal transporter of the amino acid cystine.[renalfellow.blogspot.com] It has been shown to precipitate and result in nephrolithiasis in some patients, and therefore these individuals are instructed to increase their water intake.[renalfellow.blogspot.com] Cystinosis versus Cystinuria Don't confuse "cystinosis" with "cystinuria": they are different diseases, both genetic and both involving the amino acid cystine--but with decidedly[renalfellow.blogspot.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Cystitis

    Other risk factors for developing complicated UTI include nephrolithiasis, immunocompromised status, the presence of foreign bodies such as a urinary catheter, urinary tract[ncbi.nlm.nih.gov] […] species in the same way described above for uncomplicated infection or to relapse secondary to a persistent nidus of infection related to a complicating factor, such as nephrolithiasis[clinicaladvisor.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Acquired Fanconi Syndrome

    The phenotype severity in cystinosis appears to vary with the mutations in the CTNS gene.[emedicine.medscape.com] "Nephrolithiasis related to inborn metabolic diseases". Pediatric Nephrology. 25 (3): 415–24. doi : 10.1007/s00467-008-1085-6. PMC 2810370. PMID 19156444.[en.wikipedia.org] […] metabolism Disorder of urea cycle metabolism and ammonia detoxification Distal renal tubular acidosis Distal renal tubular acidosis with anemia Dominant hypophosphatemia with nephrolithiasis[se-atlas.de]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria

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