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38 Possible Causes for Abnormal Corticomedullary Differentiation, Proteinuria, Retinal Degeneration

  • 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] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov] L) indicated predominantly tubular proteinuria.[ncbi.nlm.nih.gov]

  • Medullary Cystic Kidney Disease

    degeneration.[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] Urinalysis showed occult hematuria and proteinuria(1.06 g/gCr). /β2- microglobulin 45,000 μg/ L, N-acetyl-/β-D-glucosaminidase 5.6 U/L.[ncbi.nlm.nih.gov]

  • Nephronophthisis 3

    […] 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] Low molecular weight proteinuria was observed in all 16 detected patients.[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] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov] Low molecular weight proteinuria was observed in all 16 detected patients.[ncbi.nlm.nih.gov]

  • Nephronophthisis 12

    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] Hypertension and proteinuria are conspicuous by their absence. The chronic kidney failure affects growth and leads to short stature.[medicinenet.com]

  • Nephronophthisis 9

    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] In this patient the following findings indicated the diagnosis of nephronophthisis: absence of hematuria, proteinuria, pyuria, and glycosuria; low urinary density; normal[healio.com]

  • Senior Loken Syndrome

    […] 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] She had polyuria (2401ml/day), and a renal concentration defect (specific gravity 1.003), but no proteinuria or hematuria was observed.[jstage.jst.go.jp]

  • Nephronophthisis 13

    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] AIMS: Nephronophthisis (NPHP) is an autosomal recessive cystic disease of the kidney with main characteristic features of polyuria/polydipsia, mild or absent proteinuria,[ncbi.nlm.nih.gov]

  • Ataxia Telangiectasia

    Björklund, Markus Ringnér, Thomas Perlmann & Johan Holmberg Nature Communications (2018) DZNep inhibits H3K27me3 deposition and delays retinal degeneration in the rd1 mice[doi.org] Cellular immunity can also be affected in A-T: abnormal development of the thymus, with absence of Hassall's corpuscles and corticomedullary differentiation, impaired delayed[err.ersjournals.com] […] asymptomatic bacteriuria 無症候性細菌尿 asymptomatic diabetes 無症候性糖尿病 asymptomatic hematuria 無症候性血尿 asymptomatic hepatomegaly 無症候性肝腫大 asymptomatic hyponatremia 無症候性低ナトリウム血症 asymptomatic proteinuria[jpeds.or.jp]

  • 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] Kidney size is either normal or reduced in MCKD, and ultrasound demonstrates increased echogenicity, loss of corticomedullary differentiation, and medullary cysts ( Figure[renalandurologynews.com] […] contentious issue because the knowledge may evoke anxiety in terms of employment and insurance, screening of symptomatic cases or those that develop hypertension, hematuria and proteinuria[ncbi.nlm.nih.gov]

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