scholarly journals Renal tubular acidosis--underrated problem?

2012 ◽  
Vol 59 (2) ◽  
Author(s):  
Edyta Golembiewska ◽  
Kazimierz Ciechanowski
Keyword(s):  
Glomerular Filtration Rate ◽  
Renal Tubular Acidosis ◽  
Filtration Rate ◽  
Fanconi Syndrome ◽  
Gene Mutations ◽  
Carbonic Anhydrase Ii ◽  
Hyperchloremic Metabolic Acidosis ◽  
Renal Tubular ◽  
Underlying Processes ◽  
Normal Glomerular Filtration Rate

Renal tubular acidosis (RTA) is a hyperchloremic metabolic acidosis characterized by a normal anion gap and normal (or near normal) glomerular filtration rate in the absence of diarrhoea. Inherited isolated forms of renal tubular acidosis are not common. However, they can also be a part of a more generalized tubule defect, like in Fanconi syndrome. In recent years more and more gene mutations have been found which are associated with RTA (mutations in the gene SLC4A4, encoding a Na(+)-HCO(3)(-) cotransporter (NBC-1); in the gene SLC4A1, encoding Cl(-)/HCO3(-) exchanger (AE1); in the gene ATP6B1, encoding B1 subunit of H(+)-ATPase; in the gene CA2 encoding carbonic anhydrase II; and others) and allow better understanding of underlying processes of bicarbonate and H(+) transport. Isolated renal tubular acidosis can be frequently acquired due to use of certain drug groups, autoimmune disease or kidney transplantation. As the prevalence of acquired forms of RTA is common, new therapeutic options for the currently used supplementation of oral alkali, are awaited.

scholarly journals Clinical approach to renal tubular acidosis in children

2021 ◽  
Vol 35 ◽  
pp. 88-94
Author(s):  
Soumya Reddy ◽  
Nivedita Kamath
Keyword(s):  
Metabolic Disease ◽  
Metabolic Acidosis ◽  
Renal Tubular Acidosis ◽  
Fanconi Syndrome ◽  
Specific Treatment ◽  
Supportive Therapy ◽  
Distal Tubule ◽  
Clinical Approach ◽  
Hyperchloremic Metabolic Acidosis ◽  
Renal Tubular

Renal tubular acidosis (RTA) is a common inherited tubulopathy in children. Proximal RTA, usually secondary to a systemic metabolic disease, is characterized by a generalized dysfunction of the proximal tubule resulting in Fanconi syndrome. Distal RTA occurs due to mutation in the transporters of the distal tubule resulting in acidification defects. Hyperchloremic metabolic acidosis with normal anion gap is the characteristic feature of RTA. In addition to supportive therapy, specific treatment for the underlying etiology and regular monitoring of growth and laboratory parameters are of utmost importance.

scholarly journals Proximal renal tubular acidosis with primary Fanconi syndrome

2018 ◽  
Vol 5 (3) ◽  
pp. 1131
Author(s):  
Prijo Philip ◽  
Chinthu Sara Jacob
Keyword(s):  
Renal Tubular Acidosis ◽  
Fanconi Syndrome ◽  
Continuous Administration ◽  
Tubular Transport ◽  
Develop Type ◽  
Proximal Tubular ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular ◽  
Normal Glomerular Filtration Rate

Renal tubular acidosis (RTA) is associated with normal or near normal glomerular filtration rate. Proximal RTA is associated with impaired bicarbonate reabsorption. This is manifested as bicarbonate wastage in the urine, and this reflects the defect in proximal tubular transport. Osteopenia or full-blown rickets may develop. Type 2 RTA is rare and occurs in association with conditions such as Fanconi syndrome. This is manifested as glycosuria, aminoaciduria, phosphate wasting and mild proteinuria. The basis of therapy is the continuous administration of appropriate amounts of alkali in the form of either bicarbonate or citrate, as well as the treatment of the cause.

scholarly journals Acute Lymphoblastic Leukemia Presenting as Fanconi Syndrome

2018 ◽  
Vol 11 (1) ◽  
pp. 63-67
Author(s):  
Tatsunori Yoshida ◽  
Hiroshi Tsujimoto ◽  
Takayuki Ichikawa ◽  
Shinji Kounami ◽  
Hiroyuki Suzuki
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Renal Tubular Acidosis ◽  
Fanconi Syndrome ◽  
Blood Smear ◽  
Lymphoblastic Leukemia ◽  
Peripheral Blood Smear ◽  
Leukemic Cells ◽  
Laboratory Examinations ◽  
Renal Tubular ◽  
Electrolyte Abnormalities

Acute lymphoblastic leukemia (ALL) presenting as Fanconi syndrome (FS) is extremely rare. Here, we report a case of ALL presenting as bilateral nephromegaly following FS. A 2-year-old girl was unexpectedly diagnosed with bilateral nephromegaly. After 2 weeks, she developed general fatigue, thirst, and polyuria. Laboratory examinations revealed renal tubular acidosis, hypokalemia, hypophosphatemia, and aminoaciduria, and FS was diagnosed. Replacement of bicarbonate and potassium did not improve her condition. Two weeks after the onset of FS, leukemic cells appeared on a peripheral blood smear, and the patient was diagnosed with precursor B-cell ALL presenting as nephromegaly and FS. Chemotherapy brought about a prompt resolution of acidosis and electrolyte abnormalities, without renal dysfunction. The patient remains well 4 years after the onset of the disease. Although extremely rare, FS should be recognized as one of the emerging renal complications of ALL.

ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child

2003 ◽  
Vol 41 (1) ◽  
pp. 238-243 ◽  
Author(s):  
Hyewon Hahn ◽  
Hee Gyung Kang ◽  
Il Soo Ha ◽  
Hae Il Cheong ◽  
Yong Choi
Keyword(s):  
Renal Tubular Acidosis ◽  
Gene Mutations ◽  
Distal Renal Tubular Acidosis ◽  
Renal Tubular

scholarly journals Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations

2018 ◽  
Vol 33 (9) ◽  
pp. 1523-1529 ◽  
Author(s):  
Marta Alonso-Varela ◽  
◽  
Helena Gil-Peña ◽  
Eliecer Coto ◽  
Juan Gómez ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Distal Renal Tubular Acidosis ◽  
Renal Tubular

Acute Neutral Endopeptidase Inhibition in Patients with Normal Glomerular Filtration Rate

1992 ◽  
Vol 83 (s27) ◽  
pp. 27P-27P
Author(s):  
GW Lipkin ◽  
ABS Dawnay ◽  
SM Harwood ◽  
WR Cattell ◽  
AEG Raine
Keyword(s):  
Glomerular Filtration Rate ◽  
Glomerular Filtration ◽  
Filtration Rate ◽  
Neutral Endopeptidase ◽  
Normal Glomerular Filtration Rate

Renal Tubular Protein Degradation of Radiolabelled Aprotinin (Trasylol) in Patients with Chronic Renal Failure

1993 ◽  
Vol 85 (6) ◽  
pp. 733-736 ◽  
Author(s):  
R. Rustom ◽  
J. S. Grime ◽  
P. Maltby ◽  
H. R. Stockdale ◽  
M. J. Jackson ◽  
...  
Keyword(s):  
Renal Failure ◽  
Renal Function ◽  
Glomerular Filtration Rate ◽  
Chronic Renal Failure ◽  
Glomerular Filtration ◽  
Normal Renal Function ◽  
Filtration Rate ◽  
Renal Uptake ◽  
The Mean ◽  
Renal Tubular

1. The new method developed to measure renal tubular degradation of small filtered proteins in patients with normal renal function, using radio-labelled aprotinin (Trasylol) (R. Rustom, J. S. Grime, P. Maltby, H. R. Stockdale, M. Critchley, J. M. Bone. Clin Sci 1992; 83, 289–94), was evaluated in patients with chronic renal failure. 2. Aprotinin was labelled with either 99mTc (40 MBq) or 131I (0.1 MBq), and injected intravenously in nine patients, with different renal pathologies. 51Cr-EDTA clearance (corrected for height and weight) was 40 + 5.4 (range 11.2-81) ml min−1 1.73 m−2. Activity in plasma and urine was measured over 24–48 h, and chromatography on Sephadex-G-25-M was used to separate labelled aprotinin from free 99mTcO4− or 131I−. Renal uptake was measured for 99mTc-labelled aprotinin only. 3. The volume of distribution was 20.2 + 2.3 litres. Chromatography showed all plasma activity as undegraded aprotinin, and urine activity only as the free labels (99mTcO4− or 131I−). 4. As in patients with normal renal function, activity in the kidney appeared promptly, with 5.7 + 2.5% of the dose detected even at 5 min. Activity rose rapidly to 9.4 + 1.6% of dose after 1.5 h, then more slowly to 15.0 + 0.5% of dose at 4.5 h, and even more slowly thereafter, reaching 24.1 + 2.8% of dose at 24 h. Extra-renal uptake was again insignificant, and both 99mTcO4− and 131I− appeared promptly in the urine, with similar and uniform rates of excretion over 24 h. 5. Both tubular uptake at 24 h and the rate of tubular metabolism over 24 h were lower than in the patients with normal renal function studied previously, but only the rate of tubular metabolism was directly related to the glomerular filtration rate (r = 0.75, P <0.02). 6. Correction for the reduced glomerular filtration rate yielded values for both tubular uptake (0.67 + 0.14 versus 0.32 + 0.03% of dose/ml of glomerular filtration rate, P <0.005), and tubular metabolism (0.033 + 0.07 versus 0.015 + 0.001% of dose h−1 ml−1 of glomerular filtration rate, P <0.005) that were higher by comparison with those for patients with normal renal function studied previously. 7. Fractional renal degradation of 99mTc-aprotinin (in h−1), derived from the mean rate of urinary excretion of the free isotope over a given interval, divided by the mean cumulative kidney uptake over the same interval, also fell steeply early, and then more slowly to 0.07 + 0.01 h−1 at 14.25 h (between 4.5 and 24 h). 8. It is concluded that the method described previously is also suitable in patients with chronic renal failure, allowing further research into renal disease progression.

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