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27 Possible Causes for Abdominal Pain, Abnormal Corticomedullary Differentiation, Retinal Degeneration

  • 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] A patient with end-stage renal disease on maintenance hemodialysis developed sudden severe abdominal pain and distension.[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]

  • Senior Loken Syndrome

    […] diagnosis of these varieties of hereditary tapeto-retinal degeneration.[ncbi.nlm.nih.gov] He presented to our center complaining of acute abdominal pain and vomiting. He had abdominal tenderness without guarding.[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 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] He was transported to our emergency room because of severe abdominal pain in December 2005.[ncbi.nlm.nih.gov] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 13

    He was transported to our emergency room because of severe abdominal pain in December 2005.[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]

  • Nephronophthisis 16

    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] Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure.[ncbi.nlm.nih.gov] Renal corticomedullary cysts (HP:0000108) ........ Abnormal renal corticomedullary differentiation (HP:0005932) ...................[mseqdr.org]

  • Medullary Cystic Kidney Disease

    You may have this test to: Find the cause of abdominal pain Find the cause of kidney infections Diagnose and monitor tumors and cancers Diagnose or treat ascites Learn why[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]

  • Osteopetrosis

    She had 2 episodes of maroon stool on the day of admission without abdominal pain or hematochezia.[acgcasereports.gi.org] Riproduci file multimediale Optic-Nerve-Compression-and-Retinal-Degeneration-in-Tcirg1-Mutant-Mice-Lacking-the-Vacuolar-Type-H -pone.0012086.s001.ogv 6,7 s, 512 512; 237 KB[commons.wikimedia.org] 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]

  • Hyperalaninemia

    pain, vomiting, tiredness and muscle weakness.[rarediseases.org] degeneration-trichomegaly syndrome; septo-optic dysplasia; (iv) craniofacial disorders: acrocephaly-cleft lip-radial aplasia syndrome; acrocephalosyndactyly;type 1 (Apert[nmhealth.org] […] renal corticomedullary differentiation Cryptorchidism Coma Obesity X-linked recessive inheritance Hypogonadism Neonatal hypotonia Deeply set eye Respiratory distress Peripheral[mendelian.co]

  • Waters-West Syndrome

    pain, [13] low platelet count, [14] elevated lactate dehydrogenase LDH, a chemical released from damaged cells, and which is therefore a marker of cellular damage) [15] decreased[en.wikipedia.org] Familial, with External and Middle Ear Abnormalities OMIM:607330 Lathosterolosis OMIM:150500 Lattice Degeneration of Retina Leading to Retinal Detachment OMIM:245800 Laurence-Moon[informatics.jax.org] […] atrophy Adrenal insufficiency Absence of renal corticomedullary differentiation Hemolytic anemia Ptosis Lethargy Pachygyria Heterotopia Decreased liver function Aspiration[mendelian.co]

  • Fanconi Renotubular Syndrome

    , progressive degeneration, and wearing away of certain eye structures [ 4 ].[jmedicalcasereports.biomedcentral.com] He developed progressive weakness, abdominal pain, and nausea.[revistanefrologia.com] On review of systems, the patient denied chest pain, shortness of breath, nausea, vomiting, diarrhea, abdominal pain, fevers, chills, night sweats, reduction in appetite,[cureus.com]

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