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34 Possible Causes for Abnormal Corticomedullary Differentiation, No Hematuria, Retinal Degeneration

  • Nephronophthisis 3

    There was normal urinalysis, no hematuria, no glycosuria, no ketonuria, normal excretion of protein in 24-hour urine specimen, low urinary specific gravity, and normal urine[healio.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]

  • Cystic Kidney

    […] renal transplant which lasted 8 years, followed by 18 additional months of dialysis), before the diagnosis of ACKD was made following an episode of flank pain with gross hematuria[ncbi.nlm.nih.gov] 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]

  • Medullary Cystic Kidney Disease

    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] 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]

  • Ataxia Telangiectasia

    A Japanese boy with ataxia telangiectasia (AT) developed severe gross hematuria and recurrent bladder tamponade, requiring an extensive blood transfusion.[ncbi.nlm.nih.gov] 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]

  • Nephronophthisis 2

    There was normal urinalysis, no hematuria, no glycosuria, no ketonuria, normal excretion of protein in 24-hour urine specimen, low urinary specific gravity, and normal urine[healio.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

    There was normal urinalysis, no hematuria, no glycosuria, no ketonuria, normal excretion of protein in 24-hour urine specimen, low urinary specific gravity, and normal urine[healio.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 12

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] チャンス血尿(Asymptomatic hematuria 無症候性血尿) chance proteinuriaチャンス蛋白尿 chancroid軟性下疳 Chlamydia infectionクラミジア感染症 chronic glomerulonephritis (CGN)慢性糸球体腎炎 chronic kidney disease (CKD[tokyo-med.ac.jp] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 1

    There was normal urinalysis, no hematuria, no glycosuria, no ketonuria, normal excretion of protein in 24-hour urine specimen, low urinary specific gravity, and normal urine[healio.com] 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]

  • Senior Loken Syndrome

    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] […] 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 13

    There was normal urinalysis, no hematuria, no glycosuria, no ketonuria, normal excretion of protein in 24-hour urine specimen, low urinary specific gravity, and normal urine[healio.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]

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