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Renal Tubular Dysfunction

Kidney Tubular Disorder


  • Acute lymphoblastic leukemia (ALL) in children can rarely present with severe lactic acidosis in the absence of a high white blood cell count or other complications.[ncbi.nlm.nih.gov]
  • We present two new patients with the recently described mitochondrial m.3242G A mutation.[ncbi.nlm.nih.gov]
  • We present a newborn whose evolution was rapidly fatal.[ncbi.nlm.nih.gov]
  • The present study indicated that renal tubular dysfunction was significantly related to mortality in the general population of cadmium non-polluted areas in Japan.[ncbi.nlm.nih.gov]
  • Some patients also presented increased urinary calcium/creatinine ratio and raised fractional excretion of sodium.[ncbi.nlm.nih.gov]
  • Abstract To investigate the effects of valproic acid (VPA) on renal tubular function, we examined 15 ambulatory children with epilepsy who received VPA for at least 6 months. None of the patients had mental retardation.[ncbi.nlm.nih.gov]
  • The study was conducted on 112 children who were diagnosed with epilepsy (28 patients were observed before treatment with anti-epileptics, 28 children were administered VPA, 28 children were treated with CBZ, and 28 healthy children were selected age[ncbi.nlm.nih.gov]
  • STUDY DESIGN: The subjects were selected from patients who were diagnosed with epilepsy and administered VPA.[ncbi.nlm.nih.gov]
  • Valproate-induced hyponatremia is reported in an adult with Henoch-Schonlein nephritis who was treated with 2000 mg/day of VPA for idiopathic epilepsy.[pediatricneurologybriefs.com]
  • Ultrasonogram of the abdomen revealed nephrocalcinosis and splenomegaly. Detailed work up for anemia showed normal white cell and platelet count while peripheral smear showed microcytic hypochromic anemia with few target cells.[ncbi.nlm.nih.gov]
  • Computerized tomographic scan of the abdomen revealed nephrocalcinosis and splenomegaly [Figure 1].[sjkdt.org]
Respiratory Distress
  • Mortality may occur because of arrhythmias, renal failure, shock, and respiratory distress. The mechanisms of toxicity are unclear. This prospective, clinical study was designed to assess renal tubular dysfunction because of Oduvanthalai poisoning.[ncbi.nlm.nih.gov]
Mild Clinical Course
  • Two additionally had creatine kinase elevation, renal tubular acidosis/dysfunction and showed a mild clinical course with a favourable psychomotor development. The third patient had more neurological involvement and died in infancy.[ncbi.nlm.nih.gov]
Skin Lesion
  • Several symptoms of this condition are already usually present in the neonatal period: arthrogryposis, neonatal cholestasis, skin lesions, among others. Usually survival is until the first year of life.[ncbi.nlm.nih.gov]


  • Kashani, Biomarkers for Early Detection of Acute Kidney Injury, The Journal of Applied Laboratory Medicine: An AACC Publication, September 2017, jalm.2017.023325; DOI: 10.1373/jalm.2017.023325 (May 1, 2017) Arora, P Chronic Kidney Disease Workup.[labtestsonline.it]
  • […] incomplete and only develop in the presence of an acid load occurs despite a normal or only mildly reduced glomerular filtration rate (GFR) causes are numerous poorly understood by many physicians RTA is often detected incidentally through an abnormal blood workup[lifeinthefastlane.com]


  • On the other hand, urinary and serum zinc levels did not change significantly during the treatment.[ncbi.nlm.nih.gov]
  • RESULTS: In the 10 patients with lupus nephritis, urinary NAG before treatment was 16.9   13.39 U/gCr (P   0.005 compared with controls). NAG in controls was 1.73   0.51 U/gCr. Proteinuria before treatment was 3.84   1.93 g/24 h.[ncbi.nlm.nih.gov]
  • Before the treatment of co-trixomazole, their serum levels of creatinine showed upper limits of normal ranges.[ncbi.nlm.nih.gov]
  • We describe a case of chronic metabolic complications with bone fractures related to tenofovir treatment.[ncbi.nlm.nih.gov]
  • Children on anti-epileptic treatment with VPA or CBZ might demonstrate signs of renal tubular dysfunction, reflected by NAG/Cr activity index. This side effect can be potentially more occurred following VPA administration.[ncbi.nlm.nih.gov]


  • Prognosis Most patients die within the first year of life despite supportive care for metabolic acidosis and cholestasis and those surviving longer show cirrhosis and severe developmental delay.[orpha.net]
  • Treatment: High doses of bicarbonate are required but the prognosis is good. Correcting acidosis and low potassium levels allows normal growth and prevents bone disease; however, vitamin D supplements may also be required.[patient.info]
  • Prognosis: Rapid progression to ESRD (6 months — 2 years) CLINICAL PEARL: High prevalence of Urothelial Malignancies (40-50%) of: Upper urinary tract (multifocal high-grade transitional cell carcinoma) and bladder ** Most commonly detected in pts with[renalandurologynews.com]


  • Tests of renal tubular function on the subcohort revealed a normal anion gap, hyperchloremic, metabolic acidosis of renal etiology, defective urinary acidification, and hypokalemia with kaliuresis, indicative of distal renal tubular acidosis in six patients[ncbi.nlm.nih.gov]
  • Measuring tubular secretion as an independent marker of kidney function may provide insight into kidney disease etiology and prediction of adverse outcomes.[digital.lib.washington.edu]
  • Etiology Mutations in the VPS33B gene (15q26.1), involved in intracellular protein trafficking and membrane fusion, have been found in 75% of ARC families, as well as mutations in the VIPAR gene (C14ORF133), encoding a protein that complexes with VPS33B[orpha.net]
  • Urine pH usually is Epidemiology Incidence Predominant age: all ages Predominant sex: male female (with regard to type II RTA with isolated defect in HCO 3 reabsorption) Etiology and Pathophysiology Type I RTA Autoimmune diseases: Sjögren syndrome, rheumatoid[unboundmedicine.com]
  • Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. Nephrology, dialysis, transplantation. 2012; 27(12):4273-87. [ pubmed ] Morris CG, Low J. Metabolic acidosis in the critically ill: part 2. Causes and treatment.[lifeinthefastlane.com]


  • Community child health, public health, and epidemiology Renal tubular dysfunction in children living in the Aral Sea Region K Kaneko 1 , M Chiba 2 , M Hashizume 3 , O Kunii 3 , S Sasaki 4 , T Shimoda 5 , Y Yamashiro 1 , W Caypil 6 , D Dauletbaev 7 1 Department[adc.bmj.com]
  • Summary Epidemiology The prevalence is unknown but less than 100 patients have been reported in the literature so far.[orpha.net]
  • Urine pH usually is Epidemiology Incidence Predominant age: all ages Predominant sex: male female (with regard to type II RTA with isolated defect in HCO 3 reabsorption) Etiology and Pathophysiology Type I RTA Autoimmune diseases: Sjögren syndrome, rheumatoid[unboundmedicine.com]
  • “Lead-related nephrotoxicity: A review of the epidemiologic evidence”. Kidney International. vol. 70. 2006. pp. 2074-2084. Evans, M, Elinder, C-G. “Chronic renal failure from lead: myth or evidence-based fact”.[renalandurologynews.com]
Sex distribution
Age distribution


  • Novel techniques are important to elucidate some aspects of the pathophysiology of sickle cell nephropathy. Conflict of Interests There is no conflict of interest.[karger.com]
  • Phelps KR, Lieberman RL, Oh MS, Carroll J (1980) Pathophysiology of the syndrome of hyporeninaemic hypoaldosteronism. Metabolism 29:186–199 PubMed Google Scholar 17.[link.springer.com]
  • Pathophysiology of renal tubular acidosis and the effect on potassium balance. UpToDate Aug 26, 2013 JHB 17 April 2014[pathology.leedsth.nhs.uk]
  • Urine pH usually is Epidemiology Incidence Predominant age: all ages Predominant sex: male female (with regard to type II RTA with isolated defect in HCO 3 reabsorption) Etiology and Pathophysiology Type I RTA Autoimmune diseases: Sjögren syndrome, rheumatoid[unboundmedicine.com]
  • Molecular pathophysiology of renal tubular acidosis. Current genomics. 2009; 10(1):51-9. [ pubmed ] Ring T, Frische S, Nielsen S. Clinical review: Renal tubular acidosis–a physicochemical approach.[lifeinthefastlane.com]


  • Supplementation of carnitine for those patients to prevent such complication deserves for further study.[ncbi.nlm.nih.gov]
  • Thus, the diagnosis of this syndrome requires a careful evaluation of the venal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance.[chikd.org]
  • Continuing a maintenance dose of KPhos (1000-1500mg BID) while restarting TDF prevented recurrence in the patients when TDF was restarted for a second time.[i-base.info]
  • This treatment relieves the symptoms and prevents kidney failure and bone disease or keeps these problems from becoming worse. Other specially prepared solutions are available, and potassium supplements may also be required.[merckmanuals.com]
  • Thus, there is need to detect renal dysfunction at a much earlier stage to prevent progression and so reduce possible mortality.[omicsonline.org]

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