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2.1
Renal Tubular Dysfunction
Kidney Tubular Disorder

Presentation

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]

Workup

Acute Kidney Injury Workup. Medscape Reference. Available online at http://emedicine.medscape.com/article/243492-workup#c13. Accessed May 2016. (April 2014) Seaborg E. New Biomarkers Offer Hope for Identifying Acute Kidney Injury Risk. [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]

Treatment

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]

Prognosis

The aim of the present study was to determine whether the comorbidity of RTD, as assessed by UBCR, predicts cardiac prognosis in patients with CHF. [circheartfailure.ahajournals.org]

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]

The Child-Pugh and MELD (Model for End-Stage Liver Disease) scores were used to assess the severity and prognosis of chronic liver disease of the patients [20], [21], [24]. [journals.plos.org]

Etiology

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, [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]

Epidemiology

Summary Epidemiology The prevalence is unknown but less than 100 patients have been reported in the literature so far. [orpha.net]

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]

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, [unboundmedicine.com]

All patients had epidemiological criteria for schistosomiasis. The mean educational level was 3.9±3.0 years of study. Mean time of diagnosis was 15.5±11.5 years. [journals.plos.org]

“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]

Pathophysiology

Pathophysiology of renal tubular acidosis and the effect on potassium balance. UpToDate Aug 26, 2013 JHB 17 April 2014 [pathology.leedsth.nhs.uk]

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]

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, [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]

Prevention

Supplementation of carnitine for those patients to prevent such complication deserves for further study. [ncbi.nlm.nih.gov]

Hypokalaemia Hypokalamia, or chronic acidosis may prevent normal urinary acidification and urine pH will be > 5.5, due to increased tubular ammoniagenesis. [pathology.leedsth.nhs.uk]

The medicine helps prevent bone disease caused by too much acid, such as rickets, and to allow normal growth. Thiazide diuretics are also frequently used to preserve bicarbonate in the body. [medlineplus.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]

Chronic: oral bicarbonate; long-term potassium supplements are usually not required, as alkali therapy prevents excessive urinary potassium loss. [patient.info]

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