Enzymatically Inactive Red Cell Carbonic Anhydrase B in a Family with Renal Tubular Acidosis

Shapira, Emmanuel; Ben‐Yoseph, Yoav; Eyal, Fabien G.; Russell, A

doi:10.1172/jci107559

Cited by 56 publications

(23 citation statements)

References 12 publications

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“…Therefore, Shapira et 01. (14) studied red blood cell C A activity in a patient with R T A and deafness. They found reduced activity of C A B and defined this as a n inactive mutant form of C A B.…”

Section: Resultsmentioning

confidence: 99%

“…Shapira et 01. (14) found abnormal red blood cell C A activity in three members of a kindred with R T A and deafness. This abnormality was described as an inactive mutant form of C A B.…”

Section: Speculationmentioning

confidence: 91%

“…H F H was prepared from heparinized fresh blood after determination of the hematocrit (14). Red blood cell C A activity is present in both the raw hemolysate and in the H F H .…”

Section: Ca Activity O F Hemoglobin-free Hemolysate (Hfh)mentioning

confidence: 99%

“…C A activity of reconstituted lyophilized HFH was measured by the esterolytic activity of C A on p-nitrophenyl acetate (PNPA) (Sigma Chemical Co., St. Louis, Mo.) (14). This substrate produces a chromogen, pnitrophenol (PNP), when hydrolyzed.…”

Section: Ca Activity O F Hemoglobin-free Hemolysate (Hfh)mentioning

confidence: 99%

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Red Blood Cell Carbonic Anhydrase Activity in Children with Distal Renal Tubular Acidosis

et al. 1977

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Section: Resultsmentioning

confidence: 99%

“…Shapira et 01. (14) found abnormal red blood cell C A activity in three members of a kindred with R T A and deafness. This abnormality was described as an inactive mutant form of C A B.…”

Section: Speculationmentioning

confidence: 91%

“…H F H was prepared from heparinized fresh blood after determination of the hematocrit (14). Red blood cell C A activity is present in both the raw hemolysate and in the H F H .…”

Section: Ca Activity O F Hemoglobin-free Hemolysate (Hfh)mentioning

confidence: 99%

Section: Ca Activity O F Hemoglobin-free Hemolysate (Hfh)mentioning

confidence: 99%

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Red Blood Cell Carbonic Anhydrase Activity in Children with Distal Renal Tubular Acidosis

et al. 1977

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“…Until more is known about the exact mechanism of bicarbonate wasting, it seems preferable not to use the terms of "combined" or "mixed" proximal and distal RTA in this group of patients. Sharpira et al (38) have recently described an inactive mutant of red blood cell carboanhydrase B in three members of a large kindred who manifested infantile RTA, apparently of the distal type, and nerve deafness. The same family was reported by Cohen et al (8); unfortunately, no bicarbonate titration studies were performed.…”

Section: E U M a N N A N D S T E I N M A N Nmentioning

confidence: 99%

Persistent and Transient Distal Renal Tubular Acidosis with Bicarbonate Wasting

Leumann

Steinmann

1975

Pediatr Res

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Pediat. Res. 9: 767-773 (1975) Glucose-6-phosphate dehydrogenase renal t u b u l a r acidosis, bicarbonate wasting deficiency renal t u b u l a r acidosis, classic distal inner e a r deafness renal t u b u l a r acidosis, transient distal Lightwood's s y n d r o m e Persistent and Transient Distal Renal Tubular Acidosis withBicarbonate Wasting Bicarbonate titration studies were performed on two patients with bicarbonate wasting distal renal tubular acidosis (RTA; patients I and 2 ) and on three patients (3. 4, and 5 ) with classic distal RTA. Daily requirements of alkali were 4.5 mEq/kg body wt in patient I . a 3-year-old boy, and 16 mEq/kg in patient 2, a 5-month-old male infant. In contrast, only 1.5-2 mEq/kg/24 hr alkali were required in the three patients with classic distal RTA (age 8%-22 years). Patier~t I had glucose-6-phosphate dehydrogenase deficiency and oarietrt 3 had inner ear deafness as an associated anomalv. In patietit 2. the acidification defect was transient.Mean fractional excretion of bicarbonate (C,,,.,,,-/C,,) x 100 at a plasma concentration of H C O , below 20 mmol/liter was 5.1% in patient 1, 11.6% in patient 2, and 1.7% inpatients 3-5. Minimal urine pH during the study was 7.38 in patient 1. 7.66 in patient 2. and 6.78-6.97 in the other patients. Values of net acid excretion at plasma HCO, = 16 mmol/liter were strongly negative in patients 1 and 2 ( -7 5 and -195 pmol/lOO ml glomerular filtrate (GF), respectively) but slightly positive in the three patients with classic RTA ( + 3 to +20 Fmol/lOO ml GF).The two patients with bicarbonate wasting distal RTA were thus clearly separated from the group of patients with classic distal RTA. SpeculationBicarbonate wasting in distal RTA could be the result of an additional defect of the proximal nephron or of a distal defect which is more severe than in classic distal RTA. The transient variant might correspond to Lightwood's syndrome of "transient infantile RTA."Renal tubular acidosis is a clinical syndrome characterized by inability of the renal tubules to excrete adequate amounts of acid in the urine (in the absence of uremia). Two different types have been distinguished on clinical and physiologic grounds. In the classic distal type (type I). first described by Butler er a / . (4) and later by Albright et a / . ( I ) , clinical manifestations usually begin in the second year of life and nephrocalcinosis is often present. The urinary pH never falls below 6.2. Urinary losses of bicarbonate are low. however, and metabolic acidosis is corrected easily by oral doses of alkali (1-2 mEq/kg body wt/24 hr), correspondin_e roughly to the amount of nonvolatile acid generated daily. The second, of proximal type (type 11) of RTA has been characterized more recently (32,33). Excretion of bicarbonate in the urine is considerable. but normal urinary acidification (pH < 5.0) is

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Renal Tubular Acidosis and Sensorineural Deafness: An Autosomal Recessive Syndrome

Cremers¹,

Monnens²,

Marres³

1980

Archives of Otolaryngology - Head and Neck Surgery

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Enzymatically Inactive Red Cell Carbonic Anhydrase B in a Family with Renal Tubular Acidosis

Cited by 56 publications

References 12 publications

Red Blood Cell Carbonic Anhydrase Activity in Children with Distal Renal Tubular Acidosis

Red Blood Cell Carbonic Anhydrase Activity in Children with Distal Renal Tubular Acidosis

Persistent and Transient Distal Renal Tubular Acidosis with Bicarbonate Wasting

Renal Tubular Acidosis and Sensorineural Deafness: An Autosomal Recessive Syndrome

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