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35 Possible Causes for Abnormal Corticomedullary Differentiation, Hypomagnesemia

  • Hydronephrosis

    Perinephric urinoma Keyhole sign Loss of renal parenchyma, as suggested by: (i) cortical thinning, (ii) poor corticomedullary differentiation, (iii) increased renal echogenicity[indianpediatrics.net] […] and /or (iv) renal cysts Systemic Abnormalities Major systemic structural anomaly, e.g., cardiovascular, neurological, gastrointestinal, skeletal system Soft signs Increased[indianpediatrics.net] TABLE IV Additional Parameters Evaluated on Antenatal Ultrasonography Renal Abnormalities Oligohydramnios Dilated or thick-walled bladder Calyceal dilatation Ureteral dilatation[indianpediatrics.net]

  • Osteopetrosis

    Normal corticomedullary differentiation was evident in five (P   0.06) and 12 (P   0.005) patients at 6 and 12 months, respectively.[ncbi.nlm.nih.gov] Abnormal endobone appearance in long bones, present in 11 participants at baseline exam, disappeared in eight (P   0.008) and all (P   0.001) patients at 6 and 12 months,[ncbi.nlm.nih.gov]

  • Cystic Kidney

    HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.[pediatricurologybook.com] Kidney size is either normal or reduced in MCKD, and ultrasound demonstrates increased echogenicity, loss of corticomedullary differentiation, and medullary cysts ( Figure[renalandurologynews.com] […] increased size of kidneys, a bright echotexture (hyperechogenicity) and a loss of the normal corticomedullary differentiation.[jmg.bmj.com]

  • Hyperalaninemia

    Isolated autosomal dominant hypomagnesemia, Glaudemans type Isolated bilateral hemispheric cerebellar hypoplasia Isolated biliary atresia Isolated blepharochalasis Isolated[orpha.net] […] renal corticomedullary differentiation Cryptorchidism Coma Obesity X-linked recessive inheritance Hypogonadism Neonatal hypotonia Deeply set eye Respiratory distress Peripheral[mendelian.co] Intestinal colonization botulism Intestinal disease due to fat malabsorption Intestinal disease due to vitamin absorption anomaly Intestinal epithelial dysplasia Intestinal hypomagnesemia[orpha.net]

  • AIDS-Associated Nephropathy

    […] cell count and HIV viral load), HCV co infection, and antiretroviral drugs toxicity, low serum albumin ( 2 ), black race, hypertension, diabetes, cardiovascular disease, hypomagnesemia[omicsonline.org] […] globular, and 38% had decreased corticomedullary differentiation.[journal-ina.com] In a study carried out in Los Angeles involving 76 participants, of the 152 kidneys imaged, sonography showed that 20% were enlarged, 89% were abnormal echogenicity, 53% were[journal-ina.com]

  • Waters-West Syndrome

    1, Intestinal 1 Hypomagnesemia 2, Renal 2 Hypomagnesemia 4, Renal 1 Hypomagnesemia 5, Renal, With Ocular Involvement 3 Hypomagnesemia 6, Renal 1 Hypomyelination And Congenital[preventiongenetics.com] […] atrophy Adrenal insufficiency Absence of renal corticomedullary differentiation Hemolytic anemia Ptosis Lethargy Pachygyria Heterotopia Decreased liver function Aspiration[mendelian.co] 4, renal ( EGF) Hypomagnesemia with secondary hypocalcemia ( TRPM6) Hypomagnesemia, primary ( CLDN16) Hypomagnesemia, renal, with ocular involvement ( CLDN19) Hypomagnesemia[en.praenatal-medizin.de]

  • Fanconi Syndrome

    Gitelman syndrome is an autosomal recessive tubulopathy characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria.[ncbi.nlm.nih.gov] Abdominal ultrasound showed kidneys measuring 146 mm with preserved corticomedullary differentiation and no signs of hydronephrosis.[revistanefrologia.com] Severe hypomagnesemia, known to suppress PTH secretion, was also observed in this patient.[jmedicalcasereports.biomedcentral.com]

  • Nephronophthisis 9

    One family was excluded on the basis of mutation in the paracellin-1 gene (PCLN1; 603959), indicating that this family in fact suffered from primary hypomagnesemia with hypercalciuria[ncbi.nlm.nih.gov] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov] , renal CLDN19 Hypomagnesemia, renal CNNM1 Hypomagnesemia CNNM2 Hypomagnesemia, renal CNNM4 Jalili syndrome EGF Hypomagnesemia, renal FXYD2 Hypomagnesemia, renal HNF1B Renal[genda.com.ar]

  • Nephronophthisis 2

    One family was excluded on the basis of mutation in the paracellin-1 gene (PCLN1; 603959), indicating that this family in fact suffered from primary hypomagnesemia with hypercalciuria[ncbi.nlm.nih.gov] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov] , renal CLDN19 Hypomagnesemia, renal CNNM1 Hypomagnesemia CNNM2 Hypomagnesemia, renal CNNM4 Jalili syndrome EGF Hypomagnesemia, renal FXYD2 Hypomagnesemia, renal HNF1B Renal[genda.com.ar]

  • Senior Loken Syndrome

    , renal CLDN19 Hypomagnesemia, renal CNNM1 Hypomagnesemia CNNM2 Hypomagnesemia, renal CNNM4 Jalili syndrome EGF Hypomagnesemia, renal FXYD2 Hypomagnesemia, renal HNF1B Renal[genda.com.ar] 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] […] autosomal dominant 2 166600 Osteopetrosis, autosomal recessive 4 611490 CLDN1 3q28 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 607626 CLDN19 1p34.2 Hypomagnesemia[institutobernabeu.com]

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