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35 Possible Causes for Abnormal Corticomedullary Differentiation, Kidney Failure, Retinal Degeneration

  • Senior Loken Syndrome

    […] diagnosis of these varieties of hereditary tapeto-retinal degeneration.[ncbi.nlm.nih.gov] Fatigue and anemia from the progressive kidney failure are common problems.[wohproject.org] Absence of renal corticomedullary differentiation Short proximal phalanx of finger Vascular ring Aplasia of the middle phalanx of the hand Pyelonephritis Frontal upsweep[mendelian.co]

  • Nephronophthisis 1

    Mutations in AHI1, which encodes a cilium-localized protein, have been shown to cause a form of Joubert syndrome that is highly penetrant for retinal degeneration.[ncbi.nlm.nih.gov] On presentation, she was cachectic and dehydrated with advanced kidney failure.[ncbi.nlm.nih.gov] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 3

    […] coworkers2 was called by them: "a retinal dystrophy undistlnguishable from Leber's tapeto retinal degeneration."[healio.com] failure.[en.wikipedia.org] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 2

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] failure.[en.wikipedia.org] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Medullary Cystic Kidney Disease

    degeneration.[ncbi.nlm.nih.gov] CONCLUSION: MUC1 mutation results in progressive chronic kidney failure with a bland urinary sediment.[ncbi.nlm.nih.gov] Kidney size is either normal or reduced in MCKD, and ultrasound demonstrates increased echogenicity, loss of corticomedullary differentiation, and medullary cysts (Figure[renalandurologynews.com]

  • Nephronophthisis 12

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] failure.[en.wikipedia.org] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 9

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] failure.[en.wikipedia.org] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Meckel-Gruber Syndrome

    […] known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, and some forms of retinal[en.wikipedia.org] Most often, affected infants die of respiratory problems or kidney failure. Meckel syndrome affects 1 in 13,250 to 1 in 140,000 people worldwide.[ghr.nlm.nih.gov] […] appears to be failed interaction of the metanephric duct and renal blastema; the kidneys, therefore, show little corticomedullary differentiation, and the nephrons are severely[pathologyoutlines.com]

  • Cystic Kidney

    Arf4 deletion in photoreceptors did not cause protein mislocalization or retinal degeneration, as expected if Arf4 played a role in protein transport to the ciliary outer[ncbi.nlm.nih.gov] WBCs supplements Take baking soda ¼ tsp at bedime Sterilize food Take l-cysteine Avoid cheese The hazard of kidney failure comes from the chronic drinking of malonic acid[drclark.net] Kidney size is either normal or reduced in MCKD, and ultrasound demonstrates increased echogenicity, loss of corticomedullary differentiation, and medullary cysts ( Figure[renalandurologynews.com]

  • Nephronophthisis 13

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Gov't MeSH terms Adaptor Proteins, Signal Transducing/genetics Adaptor Proteins, Signal Transducing/metabolism Humans Kidney Failure, Chronic/diagnosis Kidney Failure, Chronic[ncbi.nlm.nih.gov] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

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