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Type 2 Renal Tubular Acidosis

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1. A mouse model of pseudohypoaldosteronism type II reveals a novel mechanism of renal tubular acidosis. (PubMed)

A mouse model of pseudohypoaldosteronism type II reveals a novel mechanism of renal tubular acidosis. Pseudohypoaldosteronism type II (PHAII) is a genetic disease characterized by association of hyperkalemia, hyperchloremic metabolic acidosis, hypertension, low renin, and high sensitivity to thiazide diuretics. It is caused by mutations in the WNK1, WNK4, KLHL3 or CUL3 gene. There is strong evidence that excessive sodium chloride reabsorption by the sodium chloride cotransporter NCC (...) /bicarbonate exchanger. Here we determine whether this system is involved in the pathogenesis of PHAII. Renal pendrin activity was markedly increased in a mouse model carrying a WNK4 missense mutation (Q562E) previously identified in patients with PHAII. The upregulation of pendrin led to an increase in thiazide-sensitive sodium chloride absorption by the cortical collecting duct, and it caused metabolic acidosis. The function of apical potassium channels was altered in this model, and hyperkalemia

2018 Kidney International

2. Pendred, pendrin, pseudohypoaldosteronism type II, and renal tubular acidosis. (PubMed)

Pendred, pendrin, pseudohypoaldosteronism type II, and renal tubular acidosis. The sodium chloride cotransporter is regulated by the with-no-lysine kinases 1 and 4. Mutations in these genes are responsible for Mendelian hypertension, increased sodium chloride cotransporter activity, metabolic acidosis, and hyperkalemia. Explaining metabolic acidosis and hyperkalemia has been difficult. We now learn that the versatile bicarbonate-chloride exchanger, pendrin, is important in the process (...) . As a result, we are confronted with still another mechanism causing renal tubular acidosis.Copyright © 2018. Published by Elsevier Inc.

2018 Kidney International

3. Type 2 Renal Tubular Acidosis

Type 2 Renal Tubular Acidosis Type 2 Renal Tubular Acidosis Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Type 2 Renal Tubular (...) Acidosis Type 2 Renal Tubular Acidosis Aka: Type 2 Renal Tubular Acidosis , Type II Renal Tubular Acidosis , Type II RTA , Proximal RTA , Proximal Renal Tubular Acidosis From Related Chapters II. Epidemiology Most commonly affects children III. Pathophysiology Proximal Tubule defect of bicarbonate reabsorption Results in bicarbonate wasting Initially distal tubule attempts to reabsorb Later distal tubule mechanisms overcome IV. Causes Medications ry cystic disease Renal Transplantation V. Signs

2018 FP Notebook

4. A child with distal (type 1) renal tubular acidosis presenting with progressive gross motor developmental regression and acute paralysis (PubMed)

A child with distal (type 1) renal tubular acidosis presenting with progressive gross motor developmental regression and acute paralysis Distal (Type 1) renal tubular acidosis (dRTA) is characterized by inability to secrete hydrogen irons from the distal tubule. The aetiology of dRTA is diverse and can be either inherited or acquired. Common clinical presentations of dRTA in the paediatric age group include polyuria, nocturia, failure to thrive, constipation, abnormal breathing (...) and positive Gower's sign), diminished lower limb reflexes and muscle tone. Her serum potassium was low (2.1 meq/l) and she was subsequently investigated for hypokalemic paralysis. Diagnosis of distal renal tubular acidosis was made, based on hypokalemic hyperchloremic metabolic acidosis with normal anion gap, high urine pH, borderline hypercalciuria, medullary nephrocalcinosis and exclusion of other differential diagnosis. The child showed complete symptomatic recovery upon commencement of standard

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2017 BMC research notes

5. Successful Management of Refractory Type 1 Renal Tubular Acidosis with Amiloride (PubMed)

Successful Management of Refractory Type 1 Renal Tubular Acidosis with Amiloride A 28-year-old female with history of hypothyroidism, Sjögren's Syndrome, and Systemic Lupus Erythematosus (SLE) presented with complaints of severe generalized weakness, muscle pain, nausea, vomiting, and anorexia. Physical examination was unremarkable. Laboratory test showed hypokalemia at 1.6 mmol/l, nonanion metabolic acidosis with HCO3 of 11 mmol/l, random urine pH of 7.0, and urine anion gap of 8 mmol/l. CT (...) scan of the abdomen revealed bilateral nephrocalcinosis. A diagnosis of type 1 RTA likely secondary to Sjögren's Syndrome was made. She was started on citric acid potassium citrate with escalating dosages to a maximum dose of 60 mEq daily and potassium chloride over 5 years without significant improvement in serum K+ and HCO3 levels. She had multiple emergency room visits for persistent muscle pain, generalized weakness, and cardiac arrhythmias. Citric acid potassium citrate was then replaced

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2017 Case reports in nephrology

6. Tacrolimus-Induced Type IV Renal Tubular Acidosis following Liver Transplantation (PubMed)

Tacrolimus-Induced Type IV Renal Tubular Acidosis following Liver Transplantation Calcineurin inhibitors remain an integral component of immunosuppressive therapy regimens following solid organ transplantation. Although nephrotoxicity associated with these agents is well documented, type IV renal tubular acidosis is a rare and potentially underreported complication following liver transplantation. Hepatologists must be able to recognize this adverse effect as it can lead to fatal hyperkalemia (...) . We describe a case of tacrolimus-induced hyperkalemic type IV renal tubular acidosis in a patient following an orthotopic liver transplant for alcoholic cirrhosis.

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2017 Case Reports in Hepatology

7. Prevalence of distal renal tubular acidosis in patients with calcium phosphate stones. (PubMed)

Prevalence of distal renal tubular acidosis in patients with calcium phosphate stones. Distal renal tubular acidosis (DRTA) is a metabolic disorder that associates urolithiasis and urinary pH > 6. The prevalence of DRTA in patients with calcium phosphate stones is not well known. The objective is to determine the prevalence of DRTA in patients with calcium phosphate stones and urinary pH above 6 based on the furosemide test.A total of 54 patients with calcium phosphate stones and urinary pH (...) above 6.0 were submitted to the furosemide test. The association of DRTA with age, sex, type of stone, stone recurrence, stone bilaterality, 24-h urine biochemistry, and adverse effects of the furosemide test were examined.The furosemide test indicated that 19 of 54 patients (35.2%) had DRTA. The sex ratio was similar in the two groups (p < 0.776). The DRTA group was significantly younger (p < 0.001), and had a higher prevalence of bilateral stones (p < 0.001), a higher prevalence of recurrent

2019 World journal of urology

8. A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report. (PubMed)

A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report. Autosomal recessive distal renal tubular acidosis (dRTA) is a rare condition, most cases of which are caused by genetic mutations. Several loss-of-function mutations in the ATP6V0A4 gene have been recently reported.A 2-month, 24-day-old Chinese girl presenting with vomiting and diarrhea.dRTA was established by metabolic acidosis and hypokalemia. Mutational analysis of the ATP6V0A4 gene revealed

2019 Medicine

9. Changes in V-ATPase subunits of human urinary exosomes reflect the renal response to acute acid/alkali loading and the defects in distal renal tubular acidosis. (PubMed)

Changes in V-ATPase subunits of human urinary exosomes reflect the renal response to acute acid/alkali loading and the defects in distal renal tubular acidosis. In the kidney, final urinary acidification is achieved by V-ATPases expressed in type A intercalated cells. The B1 subunit of the V-ATPase is required for maximal urinary acidification, while the role of the homologous B2 subunit is less clear. Here we examined the effect of acute acid/alkali loading in humans on B1 and B2 subunit (...) abundance in urinary exosomes in normal individuals and of acid loading in patients with distal renal tubular acidosis (dRTA). Specificities of B1 and B2 subunit antibodies were verified by yeast heterologously expressing human B1 and B2 subunits, and murine wild-type and B1-deleted kidney lysates. Acute ammonium chloride loading elicited systemic acidemia, a drop in urinary pH, and increased urinary ammonium excretion. Nadir urinary pH was achieved at four to five hours, and exosomal B1 abundance

2018 Kidney International

10. Autoimmune Hepatitis with Distal Renal Tubular Acidosis and Small Bowel Partial Malrotation (PubMed)

Autoimmune Hepatitis with Distal Renal Tubular Acidosis and Small Bowel Partial Malrotation Renal tubular acidosis (RTA) is not uncommon in patient with chronic autoimmune hepatitis (AIH), but usually remains latent. Here, we report a case of renal tubular acidosis RTA who presented with AIH. She was also diagnosed to have partial bowel malrotation. A 9-year-old girl, a case of distal RTA, presented with jaundice, abdominal distension and altered sensorium. She was diagnosed to be AIH, which (...) was successfully treated with steroids and azathioprine. Coexistent midgut partial malrotation with volvulus was diagnosed during the treatment. She was treated successfully with anti-tuberculous treatment for cervical lymphadenitis. Autoimmune hepatitis should not be ruled out in each case of RTA presenting with jaundice.Modi TK, Parikh H, Sadalge A, Gupte A, Bhatt P, Shukla A. Autoimmune Hepatitis with Distal Renal Tubular Acidosis and Small Bowel Partial Malrotation. Euroasian J Hepato-Gastroenterol 2015;5

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2016 Euroasian journal of hepato-gastroenterology

11. Targeted Deletion of the Ncoa7 Gene Results in Incomplete Distal Renal Tubular Acidosis in Mice. (PubMed)

Targeted Deletion of the Ncoa7 Gene Results in Incomplete Distal Renal Tubular Acidosis in Mice. We recently reported that nuclear receptor coactivator 7 (Ncoa7) is a vacuolar proton pumping ATPase (V-ATPase) interacting protein whose function has not been defined. Ncoa7 is highly expressed in the kidney and partially colocalizes with the V-ATPase in collecting duct intercalated cells (ICs). Here, we hypothesized that targeted deletion of the Ncoa7 gene could affect V-ATPase activity in ICs (...) in vivo. We tested this by analyzing the acid-base status, major electrolytes, and kidney morphology of Ncoa7 knockout (KO) mice. We found that Ncoa7 KO mice, similar to Atp6v1b1 KOs, did not develop severe distal renal tubular acidosis (dRTA), but they exhibited a persistently high urine pH and developed hypobicarbonatemia after acid loading with ammonium chloride. Conversely, they did not develop significant hyperbicarbonatemia and alkalemia after alkali loading with sodium bicarbonate. We also

2018 American Journal of Physiology. Renal physiology

12. Study Evaluating Subjects With Distal Renal Tubular Acidosis

Intervention/treatment Phase Distal Renal Tubular Acidosis Drug: ADV7103 Drug: Placebos Phase 3 Detailed Description: The study will target enrolling at least 4 subjects in each of the following age groups: 6 months - 23 months; 2-11 years, and ≥ 12 years. After screening and enrollment, subjects will participate in an 8-12 week open label period where there dose of ADV7103 will be titrated to effect, then continued for the remainder of the open label period. Periodic measurements of bicarbonate (...) Study Evaluating Subjects With Distal Renal Tubular Acidosis Study Evaluating Subjects With Distal Renal Tubular Acidosis - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Study Evaluating Subjects

2018 Clinical Trials

13. Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report. (PubMed)

Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report. Distal renal tubular acidosis (dRTA) is a heterogeneous disorder characterized by normal anion gap metabolic acidosis. Autosomal recessive dRTA is usually caused by mutations occurring in ATP6V1B1 and ATP6V0A4 genes,encoding subunits B1 and a4 of apical H+-ATPase, respectively. The heterogeneous clinical manifestations of dRTA have been described in different (...) ethnic groups harboring distinct mutations. Most of the reported cases are from Europe and Africa. At present, the prevalence of primary dRTA is still poorly elucidated in Chinese population.A 2-year and six-month-old female patient was hospitalized because of recurrent hypokalemia, hyperchloremic metabolic acidosis and growth retardation. Laboratory investigations presented a normal anion gap hyperchloremic metabolic acidosis, hypokalemia, and inappropriate alkaline urine. Renal ultrasound indicated

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2018 BMC Nephrology

14. A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis (PubMed)

A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis Various conditions including distal renal tubular acidosis (dRTA) can induce stone formation in the kidney. dRTA is characterized by an impairment of urine acidification in the distal nephron. dRTA is caused by variations in genes functioning in intercalated cells including SLC4A1/AE1/Band3 transcribing two kinds of mRNAs encoding the Cl-/HCO3- exchanger in erythrocytes

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2016 Scientific reports

15. Type 4 renal tubular acidosis in a kidney transplant recipient (PubMed)

Type 4 renal tubular acidosis in a kidney transplant recipient We report a case of a 66-year-old diabetic patient who presented with muscle weakness 2 weeks after kidney transplantation. Her immunosuppressive regimen included tacrolimus, mycophenolate mofetil, and steroids. She was found to have hyperkalemia and normal anion gap metabolic acidosis. Tacrolimus levels were in therapeutic range. All other drugs such as beta blockers and trimethoprim - sulfamethoxazole were stopped. She did (...) not respond to routine antikalemic measures. Further evaluation revealed type 4 renal tubular acidosis. Serum potassium levels returned to normal after starting sodium bicarbonate and fludrocortisone therapy. Though hyperkalemia is common in kidney transplant recipients, determining exact cause can guide specific treatment. Copyright © 2016 Chang Gung University. Published by Elsevier B.V. All rights reserved.

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2016 Biomedical journal

16. Sodium valproate-induced Fanconi type proximal renal tubular acidosis (PubMed)

Sodium valproate-induced Fanconi type proximal renal tubular acidosis We present a case series of three patients with sodium valproate-induced Fanconi's syndrome, with ages ranging from 5 years to 12 years. The most important diagnostic features of this syndrome include hypophosphataemia, glycosuria and proteinuria, which are also noted in our series. Furthermore, also added is that clinical fractures representing an underlying osteopaenia may provide an opportunity for early intervention (...) as it raises the suspicion of Fanconi's syndrome. Previous case reports suggest there is a subpopulation of individuals who are at risk of developing this condition. These individuals share similar characteristics, including being non-ambulatory, developmentally delayed and/or tube fed. Withdrawing sodium valproate therapy is the ultimate treatment for valproate-induced Fanconi's syndrome and from previous case series, normalised renal function occurs in approximately 6 months. Often, supplement support

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2016 BMJ case reports

17. Renal tubular acidosis type 4 in pregnancy (PubMed)

Renal tubular acidosis type 4 in pregnancy We describe the clinical course of renal tubular acidosis (RTA) type 4 in pregnancy, which has not been previously published. Renal tubular acidosis type 4 is a condition associated with increased urinary ammonia secondary to hypoaldosteronism or pseudohypoaldosteronism. Pregnancy may worsen the hyperkalaemia and acidosis of renal tubular acidosis type 4, possibly through an antialdosterone effect. We advise regular monitoring of potassium and pH

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2016 BMJ case reports

18. Type 4 Renal Tubular Acidosis

Cause: restriction s Low dose (1-2 meq/kg/day) Images: Related links to external sites (from Bing) These images are a random sampling from a Bing search on the term "Type 4 Renal Tubular Acidosis." Click on the image (or right click) to open the source website in a new browser window. Related Studies (from Trip Database) Related Topics in Acid and Base Disorders About FPnotebook.com is a rapid access, point-of-care medical reference for primary care and emergency clinicians. Started in 1995 (...) Type 4 Renal Tubular Acidosis Type 4 Renal Tubular Acidosis Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Type 4 Renal Tubular

2018 FP Notebook

19. Type 3 Renal Tubular Acidosis

Type 3 Renal Tubular Acidosis Type 3 Renal Tubular Acidosis Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Type 3 Renal Tubular (...) Acidosis Type 3 Renal Tubular Acidosis Aka: Type 3 Renal Tubular Acidosis , Type III Renal Tubular Acidosis , Type III RTA From Related Chapters II. Pathophysiology Variant of ( ) affecting children Results in severe bicarbonate wasting III. Signs See Acute hypokalemic paralysis IV. Labs See Serum Bicarbonate May precipitously fall to lethal levels (<3 meq/L) Images: Related links to external sites (from Bing) These images are a random sampling from a Bing search on the term "Type 3 Renal Tubular

2018 FP Notebook

20. Type 1 Renal Tubular Acidosis

RTA >15%: Assumes serum bicarbonate >20 meq/L VI. Management: Bicarbonate Supplementation Dose: 1-2 meq/kg/day Goal: Serum bicarbonate > 22 meq/L Corrects Images: Related links to external sites (from Bing) These images are a random sampling from a Bing search on the term "Type 1 Renal Tubular Acidosis." Click on the image (or right click) to open the source website in a new browser window. Related Studies (from Trip Database) Related Topics in Acid and Base Disorders About FPnotebook.com (...) Type 1 Renal Tubular Acidosis Type 1 Renal Tubular Acidosis Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Type 1 Renal Tubular

2018 FP Notebook

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