Varied Types of Urinary Calculi in a Patient With Cystinosis Without Renal Tubular Acidosis

PEDIATRICS ◽  
1986 ◽  
Vol 78 (2) ◽  
pp. 295-297
Author(s):  
Joe Black ◽  
F. Bruder Stapleton ◽  
Shane Roy ◽  
Jewell Ward ◽  
H. Norman Noe
Keyword(s):  
Calcium Oxalate ◽  
Renal Tubular Acidosis ◽  
Case History ◽  
Urinary Calculi ◽  
Renal Calculi ◽  
Tubular Dysfunction ◽  
Calcium Oxalate Stone ◽  
Proximal Tubular ◽  
History Of ◽  
Renal Tubular

Renal calculi have rarely been cited as a major manifestation of cystinosis. We report a case history of a child with multiple urate calculi and a calcium oxalate stone resulting from proximal tubular dysfunction that was not associated with bicarbonate wastage.

scholarly journals Rickets with hypophosphatemia, hypokalemia and normal anion gap metabolic acidosis: not always an easy diagnosis

2020 ◽  
Vol 13 (1) ◽  
pp. e233350
Author(s):  
Saurav Shishir Agrawal ◽  
Chandan Kumar Mishra ◽  
Chhavi Agrawal ◽  
Partha Pratim Chakraborty
Keyword(s):  
Metabolic Acidosis ◽  
Renal Tubular Acidosis ◽  
Potassium Citrate ◽  
Anion Gap ◽  
Tubular Dysfunction ◽  
Diagnostic Challenge ◽  
Primary Defect ◽  
Proximal Tubular Dysfunction ◽  
Proximal Tubular ◽  
Renal Tubular

Rickets other than those associated with advanced kidney disease, isolated distal renal tubular acidosis (dRTA) and hypophosphatasia (defective tissue non-specific alkaline phosphatase) are associated with hypophosphatemia due to abnormal proximal tubular reabsorption of phosphate. dRTA, however, at times is associated with completely reversible proximal tubular dysfunction. On the other hand, severe hypophosphatemia of different aetiologies may also interfere with both distal tubular acid excretion and proximal tubular functions giving rise to transient secondary renal tubular acidosis (distal and/or proximal). Hypophosphatemia and non-anion gap metabolic acidosis thus pose a diagnostic challenge occasionally. A definitive diagnosis and an appropriate management of the primary defect results in complete reversal of the secondary abnormality. A child with vitamin D resistant rickets was thoroughly evaluated and found to have primary dRTA with secondary proximal tubular dysfunction in the form of phosphaturia and low molecular weight proteinuria. The child was treated only with oral potassium citrate. A complete clinical, biochemical and radiological improvement was noticed in follow-up.

Studies of the urinary acidification defect induced by lithium

1982 ◽  
Vol 242 (1) ◽  
pp. F23-F29 ◽  
Author(s):  
N. Bank ◽  
P. D. Lief ◽  
H. S. Aynedjian ◽  
B. F. Mutz
Keyword(s):  
Proximal Tubule ◽  
Renal Tubular Acidosis ◽  
Electrical Potential ◽  
Distal Renal Tubular Acidosis ◽  
Distal Nephron ◽  
Luminal Membrane ◽  
Proximal Tubular ◽  
Renal Tubular ◽  
Convoluted Tubules

Experiments were carried out in rats and isolated turtle bladders to study the defect in H+ transport induced by LiCl. After 3-4 days of intraperitoneal LiCl, rats developed urinary findings of "distal" renal tubular acidosis. Proximal tubular fluid pH measured in situ by glass microelectrodes was higher in lithium-treated rats than in acidotic controls. Proximal fluid total CO2 [tCO2] was also higher, and the fraction of tCO2 leaving the proximal tubule was 14 vs. 7% (P less than 0.001). Impaired acidification was also apparent beyond distal convoluted tubules, as judged by normal distal tCO2 reabsorption but increased HCO3(-) in the urine. During NaHCO3 loading, the proximal defect was ameliorated but not the distal. Turtle bladder studies showed that mucosal lithium inhibits H+ secretion secondary to reducing transepithelial electrical potential, presumably by hyperpolarization of the luminal membrane. A similar mechanism may be responsible for lithium's effect on the distal nephron. Inhibition of proximal tubular HCO3(-) reabsorption is probably not attributable to electrical potential changes but might be due to interference of luminal membrane Na+ entry by Li+ and reduced (Na+ + Li+)-H+ exchange.

scholarly journals NEPHROCALCINOSIS AND URINARY CALCULI ASSOCIATED WITH INCOMPLETE RENAL TUBULAR ACIDOSIS

1976 ◽  
Vol 67 (3) ◽  
pp. 188-200
Author(s):  
Yoshiharu Hiratsuka ◽  
Yasuhito Fujisawa ◽  
Takashi Taguchi
Keyword(s):  
Renal Tubular Acidosis ◽  
Urinary Calculi ◽  
Renal Tubular

Tubular function

2015 ◽  
Author(s):  
Marijn Speeckaert ◽  
Joris Delanghe
Keyword(s):  
Fractional Excretion ◽  
Tubular Function ◽  
Tubular Dysfunction ◽  
Renal Fanconi Syndrome ◽  
Glomerular Function ◽  
Diminished Capacity ◽  
Fractional Excretion Of Sodium ◽  
Proximal Tubular ◽  
Pass Through ◽  
Renal Tubular

Assessment of tubular function is more complicated than the measurement of glomerular filtration rate. Different functions may be affecting according to the different segments of tubule involved. Key tests include concentrating and diluting capacity, and fractional excretion of sodium. Tubular proteinuria occurs when glomerular function is normal, but when the proximal tubules have a diminished capacity to reabsorb and to catabolize proteins, causing an increased urinary excretion of the low-molecular-mass proteins that normally pass through the glomerulus. Proximal tubular dysfunction is characterized by hypophosphataemia, and a variety of other abnormalities characteristics of the renal Fanconi syndrome. Distinguishing the location of the lesion in Renal Tubular Acidosis is considered in Chapter 35.

scholarly journals NEPHROLOGY: The natural history of renal tubular acidosis: Lightwood's syndrome revisitied

1971 ◽  
Vol 5 (8) ◽  
pp. 382-382 ◽  
Author(s):  
Martin A Nash ◽  
Antonio D Torrado ◽  
Eddie S Moore ◽  
Juan Rodriguez-Soriano ◽  
Ira Greifer ◽  
...  
Keyword(s):  
Natural History ◽  
Renal Tubular Acidosis ◽  
History Of ◽  
Renal Tubular

scholarly journals Extrarenal Signs of Proximal Renal Tubular Acidosis Persist in Nonacidemic Nbce1b/c-Null Mice

2019 ◽  
Vol 30 (6) ◽  
pp. 979-989 ◽  
Author(s):  
Emily E. Salerno ◽  
Sangita P. Patel ◽  
Aniko Marshall ◽  
Jordan Marshall ◽  
Thamer Alsufayan ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Growth Retardation ◽  
Tooth Enamel ◽  
Genetic Locus ◽  
Corneal Edema ◽  
Enamel Organ ◽  
Alkali Therapy ◽  
Proximal Tubular ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular

BackgroundThe SLC4A4 gene encodes electrogenic sodium bicarbonate cotransporter 1 (NBCe1). Inheritance of recessive mutations in SLC4A4 causes proximal renal tubular acidosis (pRTA), a disease characterized by metabolic acidosis, growth retardation, ocular abnormalities, and often dental abnormalities. Mouse models of pRTA exhibit acidemia, corneal edema, weak dental enamel, impacted colons, nutritional defects, and a general failure to thrive, rarely surviving beyond weaning. Alkali therapy remains the preferred treatment for pRTA, but it is unclear which nonrenal signs are secondary to acidemia and which are a direct consequence of NBCe1 loss from nonrenal sites (such as the eye and enamel organ) and therefore require separate therapy. SLC4A4 encodes three major NBCe1 variants: NBCe1-A, NBCe1-B, and NBCe1-C. NBCe1-A is expressed in proximal tubule epithelia; its dysfunction causes the plasma bicarbonate insufficiency that underlies acidemia. NBCe1-B and NBCe1-C exhibit a broad extra-proximal-tubular distribution.MethodsTo explore the consequences of Nbce1b/c loss in the absence of acidemia, we engineered a novel strain of Nbce1b/c-null mice and assessed them for signs of pRTA.ResultsNbce1b/c-null mice have normal blood pH, but exhibit increased mortality, growth retardation, corneal edema, and tooth enamel defects.ConclusionsThe correction of pRTA-related acidemia should not be considered a panacea for all signs of pRTA. The phenotype of Nbce1b/c-null mice highlights the physiologic importance of NBCe1 variants expressed beyond the proximal tubular epithelia and potential limitations of pH correction by alkali therapy in pRTA. It also suggests a novel genetic locus for corneal dystrophy and enamel hypomineralization without acidemia.

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