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715 Possible Causes for Tubulopathy

  • Gitelman Syndrome

    Gitelman syndrome is a rare inherited renal tubulopathy associated with metabolic alkalosis and electrolyte disorders.[] We conducted targeted sequencing for 22 genes including genes responsible for tubulopathies and other inherited diseases manifesting with p-BS/GS symptoms.[] Gitelman syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy. The incidence of Gitelman syndrome is 25 cases in 1 million among western population.[]

  • Nephrocalcinosis

    The most common condition leading to NC was hereditary tubulopathies (50%).[] […] hypotheses concerning initiating lesions of nephrocalcinosis using available laboratory and clinical studies and will examine whether new understanding of the molecular basis of tubulopathies[]

  • Bartter's Disease

    Bartter syndromes and other salt-losing tubulopathies. Nephron Physiol. 2006;104:73-80. Vezzoli G, Arcidiacono T, Paloschi V, et al.[] Conclusions Bartter syndrome – is a rare tubulopathy.[] “Bartter and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.”. Pediatr Nephrol,. 2011. Seyberth, HW.[]

  • Fanconi Syndrome

    Among the various forms of renal involvement in multiple myeloma, light chain proximal tubulopathy (LCPT) is the rarest.[] Fanconi syndrome due to light chain proximal tubulopathy in a patient with multiple myeloma.[] DESIGN: We prospectively enrolled HIV-infected patients receiving TDF with newly identified FS (defined as at least two markers of proximal tubulopathy and either a 25% decline[]

  • Renal Tubular Dysfunction

    Proximal tubulopathy appears to be a rare adverse effect of long-term tenofovir therapy.[] In addition, 6 of 41 patients (14.6%) with beta-thalassemia minor showed significant signs of renal tubulopathy, such as hypercalciuria, decreased tubular reabsorption of[] Chromatography of urinary amino acid showed severe hyperaminoaciduria with citrullinuria, compatible with tubulopathy. All antiretroviral agents were stopped.[]

  • Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome

    Protease resistance and binding of Ig light chains in myeloma-associated tubulopathies. Kidney Int. 1995;48(1):72–9.[] Said SM, Assaad AM, Cerda J, et al Light chain tubulopathy without Fanconi syndrome. Nephrol Dial Transplant 2006; 21:3589–3590. 11.[] TERMINOLOGY Abbreviations Light chain Fanconi syndrome (LCFS) Synonyms Light chain proximal tubulopathy Acute tubulopathy, light chain related Related disorder with proximal[]

  • Isolated CoQ-Cytochrome C Reductase Deficiency

    Disease Type of connection Histiocytoid cardiomyopathy Leber hereditary optic neuropathy Leigh syndrome with nephrotic syndrome Björnstad syndrome GRACILE syndrome Renal tubulopathy[] Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and[] A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.[]

  • Acute Infantile Liver Failure-Multisystemic Involvement Syndrome

    Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. {ECO:0000269 PubMed:22607940}.[] Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy.[] Encephalopathy & Cardiomyopathy: NDUFA2, NDUFA11 Macrocephaly with progressive leukodystrophy: NDUFV1 Encephalomyopathy: NDUFV1 ; C6ORF66 ; NUBPL Hepatomegaly with renal tubulopathy[]

  • Peripheral Neuropathy

    We report a case of an infant with myopathy, deafness, peripheral neuropathy, nephrocalcinosis, proximal renal tubulopathy, moderate lactic acidosis, and a novel mutation[]

  • Hypercalcemic Nephropathy

    […] hypotheses concerning initiating lesions of nephrocalcinosis using available laboratory and clinical studies and will examine whether new understanding of the molecular basis of tubulopathies[]

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