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  1. Article ; Online: Improving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance.

    IJzermans, Ties / van der Meijden, Wilbert / Hoeks, Marlijn / Huigen, Marleen / Rennings, Alexander / Nijenhuis, Tom

    American journal of kidney diseases : the official journal of the National Kidney Foundation

    2022  Volume 81, Issue 4, Page(s) 493–496

    Abstract: Lysinuric protein intolerance (LPI) is a rare metabolic disorder with reduced renal and intestinal reabsorption of ornithine, lysine, and arginine. It is due to variants in SLC7A7, the gene encoding y+L amino acid transporter 1 (y+LAT1), which lead to ... ...

    Abstract Lysinuric protein intolerance (LPI) is a rare metabolic disorder with reduced renal and intestinal reabsorption of ornithine, lysine, and arginine. It is due to variants in SLC7A7, the gene encoding y+L amino acid transporter 1 (y+LAT1), which lead to urea cycle defects with protein intolerance. Chronic kidney disease in lysinuric protein intolerance is common and can progress to kidney failure and initiation of kidney replacement therapy. Kidney transplantation could in theory improve urine levels and, consequently, plasma levels of these amino acids and therefore improve clinical symptoms, as well as protein intolerance, in patients with lysinuric protein intolerance. However, data on kidney transplantation in patients with lysinuric protein intolerance are limited, and up until now no data on clinical and biochemical improvement after kidney transplantation have been reported. In this case report we describe a rare case of kidney transplantation in a lysinuric protein intolerance patient with substantial improvement in protein tolerance; in plasma and urine levels of ornithine, lysine, and arginine; and in lysinuric protein intolerance symptoms.
    MeSH term(s) Humans ; Lysine/urine ; Kidney Transplantation ; Amino Acid Metabolism, Inborn Errors/complications ; Amino Acid Metabolism, Inborn Errors/drug therapy ; Amino Acid Metabolism, Inborn Errors/genetics ; Metabolic Diseases ; Arginine/therapeutic use ; Arginine/metabolism ; Ornithine/therapeutic use ; Amino Acid Transport System y+L
    Chemical Substances Lysine (K3Z4F929H6) ; Arginine (94ZLA3W45F) ; Ornithine (E524N2IXA3) ; SLC7A7 protein, human ; Amino Acid Transport System y+L
    Language English
    Publishing date 2022-10-09
    Publishing country United States
    Document type Case Reports
    ZDB-ID 604539-x
    ISSN 1523-6838 ; 0272-6386
    ISSN (online) 1523-6838
    ISSN 0272-6386
    DOI 10.1053/j.ajkd.2022.08.019
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1669: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (1.OG)
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    Zs.MO 468: Show issues

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  2. Article: MRI-Guided Biopsy as a Tool for Diagnosis and Research of Muscle Disorders.

    Lassche, Saskia / Janssen, Barbara H / IJzermans, Ties / Fütterer, Jurgen J / Voermans, Nicol C / Heerschap, Arend / Küsters, Benno / Mann, Ritse M / van Engelen, Baziel Gm

    Journal of neuromuscular diseases

    2018  Volume 5, Issue 3, Page(s) 315–319

    Abstract: Background: Sampling error is a common problem in muscle biopsies. MRI-guided biopsy allows verification of biopsy site during the procedure, which may reduce sampling error in patients with focal disease.: Objectives: To describe the technique for ... ...

    Abstract Background: Sampling error is a common problem in muscle biopsies. MRI-guided biopsy allows verification of biopsy site during the procedure, which may reduce sampling error in patients with focal disease.
    Objectives: To describe the technique for MRI-guided muscle biopsy and discuss potential applications.
    Methods: Axial MRI images were acquired to determine the target site for muscle biopsy. Needle trajectory was planned on 3D T1 weighted imaging and a MRI-guided biopsy of the vastus lateralis was performed in 13 FSHD patients.
    Results: An adequate amount of muscle tissue was obtained in all participants, and MRI-guided biopsy succeeded in reaching focal target sites. However, symptomatic hematomas were observed in 2/13 patientsDiscussion:MRI-guided biopsy has a higher complication rate compared to traditional needle biopsy, most likely due to proximity to blood vessels in combination with the vacuum-assisted suction of the MRI-guided technique. We recommend that this technique is reserved for select diagnostic cases and research questions, with careful assessment of vasculature and reduced suction levels.
    MeSH term(s) Female ; Hematoma/etiology ; Hematoma/pathology ; Humans ; Image-Guided Biopsy/adverse effects ; Image-Guided Biopsy/methods ; Inflammation/pathology ; Magnetic Resonance Imaging, Interventional/methods ; Middle Aged ; Muscle, Skeletal/pathology ; Muscular Diseases/diagnosis ; Muscular Diseases/diagnostic imaging ; Muscular Dystrophy, Facioscapulohumeral/diagnosis ; Muscular Dystrophy, Facioscapulohumeral/pathology ; Myositis/diagnosis ; Myositis/pathology ; Needles
    Language English
    Publishing date 2018-08-31
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ISSN 2214-3599
    ISSN 2214-3599
    DOI 10.3233/JND-180318
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: SARS-CoV-2 infects the human kidney and drives fibrosis in kidney organoids.

    Jansen, Jitske / Reimer, Katharina C / Nagai, James S / Varghese, Finny S / Overheul, Gijs J / de Beer, Marit / Roverts, Rona / Daviran, Deniz / Fermin, Liline A S / Willemsen, Brigith / Beukenboom, Marcel / Djudjaj, Sonja / von Stillfried, Saskia / van Eijk, Larissa E / Mastik, Mirjam / Bulthuis, Marian / Dunnen, Wilfred den / van Goor, Harry / Hillebrands, Jan-Luuk /
    Triana, Sergio H / Alexandrov, Theodore / Timm, Marie-Cherelle / van den Berge, Bartholomeus T / van den Broek, Martijn / Nlandu, Quincy / Heijnert, Joelle / Bindels, Eric M J / Hoogenboezem, Remco M / Mooren, Fieke / Kuppe, Christoph / Miesen, Pascal / Grünberg, Katrien / Ijzermans, Ties / Steenbergen, Eric J / Czogalla, Jan / Schreuder, Michiel F / Sommerdijk, Nico / Akiva, Anat / Boor, Peter / Puelles, Victor G / Floege, Jürgen / Huber, Tobias B / van Rij, Ronald P / Costa, Ivan G / Schneider, Rebekka K / Smeets, Bart / Kramann, Rafael

    Cell stem cell

    2021  Volume 29, Issue 2, Page(s) 217–231.e8

    Abstract: Kidney failure is frequently observed during and after COVID-19, but it remains elusive whether this is a direct effect of the virus. Here, we report that SARS-CoV-2 directly infects kidney cells and is associated with increased tubule-interstitial ... ...

    Abstract Kidney failure is frequently observed during and after COVID-19, but it remains elusive whether this is a direct effect of the virus. Here, we report that SARS-CoV-2 directly infects kidney cells and is associated with increased tubule-interstitial kidney fibrosis in patient autopsy samples. To study direct effects of the virus on the kidney independent of systemic effects of COVID-19, we infected human-induced pluripotent stem-cell-derived kidney organoids with SARS-CoV-2. Single-cell RNA sequencing indicated injury and dedifferentiation of infected cells with activation of profibrotic signaling pathways. Importantly, SARS-CoV-2 infection also led to increased collagen 1 protein expression in organoids. A SARS-CoV-2 protease inhibitor was able to ameliorate the infection of kidney cells by SARS-CoV-2. Our results suggest that SARS-CoV-2 can directly infect kidney cells and induce cell injury with subsequent fibrosis. These data could explain both acute kidney injury in COVID-19 patients and the development of chronic kidney disease in long COVID.
    MeSH term(s) COVID-19/complications ; Fibrosis ; Humans ; Kidney ; Organoids/pathology ; SARS-CoV-2
    Language English
    Publishing date 2021-12-25
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2375354-7
    ISSN 1875-9777 ; 1934-5909
    ISSN (online) 1875-9777
    ISSN 1934-5909
    DOI 10.1016/j.stem.2021.12.010
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 6589: Show issues Location:
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