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22 Possible Causes for Abnormal Corticomedullary Differentiation, Corticomedullary Cysts, Retinal Degeneration

  • Nephronophthisis 3

    […] hosted on other servers: Cysts at corticomedullary junction, tubular cysts and interstitial infiltrate Microscopic (histologic) description Severe tubular atrophy with thick[pathologyoutlines.com] […] coworkers2 was called by them: "a retinal dystrophy undistlnguishable from Leber's tapeto retinal degeneration."[healio.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 12

    […] hosted on other servers: Cysts at corticomedullary junction, tubular cysts and interstitial infiltrate Microscopic (histologic) description Severe tubular atrophy with thick[pathologyoutlines.com] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 2

    Whilst enlarged dysplastic cystic kidneys are associated with infantile NPHP, more typically renal ultrasound reveals normal kidney size and corticomedullary cysts in a child[oxfordmedicine.com] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 9

    […] hosted on other servers: Cysts at corticomedullary junction, tubular cysts and interstitial infiltrate Microscopic (histologic) description Severe tubular atrophy with thick[pathologyoutlines.com] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 1

    Renal ultrasound typically shows normal kidney size with increased echogenicity and corticomedullary cysts.[ncbi.nlm.nih.gov] 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] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 13

    Renal ultrasound typically shows normal kidney size with increased echogenicity and corticomedullary cysts.[ncbi.nlm.nih.gov] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Medullary Cystic Kidney Disease

    corticomedullary cysts should prompt further investigation, given the implication of having the disease.[ncbi.nlm.nih.gov] degeneration.[ncbi.nlm.nih.gov] Histological examination usually reveals abnormalities in ductal differentiation and minimal corticomedullary differentiation.[lecturio.com]

  • Senior-Løken Syndrome

    On ultrasonography, the kidneys may show an increase in the echogenicity of renal parenchyma, cysts in a poorly differentiated corticomedullary junction or medullary cysts[symptoma.com] […] diagnosis of these varieties of hereditary tapeto-retinal degeneration.[ncbi.nlm.nih.gov] 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 16

    Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals).[ncbi.nlm.nih.gov] NPHP is a therefore considered to be a ciliopathy, and can be part of a broad spectrum of clinical disease that includes extra-renal manifestations including retinal degeneration[content.iospress.com] Renal corticomedullary cysts (HP:0000108) ........ Abnormal renal corticomedullary differentiation (HP:0005932) ...................[mseqdr.org]

  • Cystic Kidney

    Medullary Sponge Kidney Normal sized kidneys Medullary cysts No gene defect identified Medullary Cystic Disease Small kidneys Corticomedullary cysts MCKD gene mutations Autosomal[library.med.utah.edu] 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] Kidney size is either normal or reduced in MCKD, and ultrasound demonstrates increased echogenicity, loss of corticomedullary differentiation, and medullary cysts ( Figure[renalandurologynews.com]

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