Advertisement

Familial proximal renal tubular acidosis

A distinct clinical entity
      This paper is only available as a PDF. To read, Please Download here.

      Abstract

      We have studied a family in which nine members present hyperchloremic acidosis with normal plasma creatinine and good ability to acidify urine. Renal functions, other than bicarbonate wasting, are normal, which identifies the condition as a pure form of proximal renal tubular acidosis. The acidosis persists into adult life and appears to be inherited as an autosomal dominant trait. All affected members are asymptomatic and the only peculiar finding is a decrease in stature. No hypercalciuria was detected, and no evidence of rickets or osteomalacia was found by x-ray studies. We consider these findings characteristic of a familial trait different from that in previously reported cases of renal tubular acidosis.
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to The American Journal of Medicine
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Rodriguez-Soriano J
        • Edelmann Jr, CM
        Renal tubular acidosis.
        Ann Rev Med. 1969; 20: 363
        • Morris Jr, RC
        • Sebastian A
        • McSherry E
        Renal acidosis.
        Kidney Int. 1972; 1: 322
        • Relman AS
        • Lennon EJ
        • Lemann Jr, J
        Endogenous production of fixed acid and the measurement of net balance of acid in normal subjects.
        J Clin Invest. 1961; 40: 1621
        • Edelmann Jr, CM
        • Rodriguez-Soriano J
        • Boichis H
        • et al.
        An isolated defect in renal bicarbonate reabsorption as a cause of hyperchloremic acidosis.
        J Pediatr. 1965; 67: 946
        • Rodriguez-Soriano J
        • Boichis H
        • Stark H
        • et al.
        Proximal renal tubular acidosis. A defect in bicarbonate reabsorption with normal urinary acidification.
        Pediatr Res. 1967; 1: 81
        • Nash MA
        • Torrado AD
        • Greifer I
        • et al.
        Renal tubular acidosis in infants and children.
        J Pediatr. 1972; 80: 738
        • Console V
        • D'Amico E
        • Satolli E
        Su un caso di acidosis tubulare renale prossimale cronica isolata.
        Minerva Pediatr. 1972; 23: 1649
        • Gambino SR
        • Astrup P
        • Bates RG
        • et al.
        Report of the Ad Hoc Committee on Methodology.
        Ann NY Acad Sci. 1966; 133: 259
        • Asper SP
        • Schales O
        • Schales SS
        Importance of controlling pH in the Schales and Schales method of chloride determination.
        J Biol Chem. 1947; 168: 779
        • Ham AB
        A modified chloranilic acid method for calcium determination.
        Am J Med Technol. 1969; 35: 807
        • Fiske CH
        • Subbarrow Y
        The colorimetric determination of phosphorus.
        J Biol Chem. 1925; 66: 375
        • Bessey OA
        • Lowry OH
        • Brock MJ
        Method for rapid determination of alkaline phosphatase.
        J Biol Chem. 1946; 164: 321
        • Caraway WT
        Determination of uric acid in serum by a carbonate method.
        Am J Clin Pathol. 1955; 25: 840
        • Conway EJ
        Microdiffusion Analysis and Volumetric Error.
        in: 4th ed. Macmillan, New York1952: 98
        • Efron ML
        • Young D
        • Moser HW
        • et al.
        A simple Chromatographic screening test for detection of disorders of amino acid metabolism.
        N Engl J Med. 1964; 270: 1378
        • Pyle SI
        • Waterhouse AM
        • Greulich WW
        A radiographic standard of reference for the growing hand and wrist.
        in: Year Book Medical Publisher, Inc, Chicago1971: 66
      1. Publication of the Institute of Nutrition of Central America and Panamá No. V-28. 1968; (Guatemala): 39
        • Villarejos VM
        • Osborne JA
        • Payne FJ
        • et al.
        Heights and weights of children in urban and rural Costa Rica.
        J Trop Pediatr. 1971; 17: 32
        • Saenz GF
        • Beirute C
        Valores séricos de acido úrico y de creatinina en Costa Rica.
        Rev Med Hosp Niños (Costa Rica). 1969; 4: 47
        • Gutman AB
        • Yü TF
        Renal function in gout with a commentary on the renal regulation of urate excretion, and the role of the kidney in the pathogenesis of gout.
        Am J Med. 1957; 23: 600
        • Seegmiller JE
        • Grayzel AL
        • Laster L
        • et al.
        Uric acid production in gout.
        J Clin Invest. 1961; 40: 1304
        • Edelmann Jr, CM
        • Boichis H
        • Rodriguez-Soriano J
        • et al.
        Renal response of children to acute ammonium chloride acidosis.
        Pediatr Res. 1967; 1: 452
        • Morris Jr, RC
        • Fudenberg HH
        Impaired renal acidification in patients with hypergammaglobulinemia.
        Medicine (Baltimore). 1967; 46: 59
        • Brenes JN
        • Hernandez MM
        • Rodriguez VM
        • et al.
        Correction of bicarbonate wasting in proximal renal tubular acidosis by chloride restriction.
        Clin Res. 1974; 22: 518A
        • Gutman AB
        • Yü TF
        An abnormality of glutamine metabolism in primary gout.
        Am J Med. 1963; 35: 820
        • Kogut MD
        • Donnell GN
        • Nyahan WL
        • et al.
        Disorder of purine metabolism due to partial deficiency of hypoxanthineguanine-phosphoribosyltransferase.
        Am J Med. 1970; 48: 148
        • Balagura-Baruch S
        Renal metabolism and transfer of ammonia.
        (chap 5)in: The Kidney. vol III. Academic Press, New York1971
        • Glabman S
        • Klose RM
        • Giebisch G
        Micropuncture study of ammonia excretion in the rat.
        Am J Physiol. 1963; 205: 127
        • Clapp JR
        • Owen EE
        • Robinson RR
        Contribution of the proximal tubule to urinary ammonia excretion by the dog.
        Am J Physiol. 1965; 209: 269
        • Abassi V
        • Lowe CU
        • Calcagno PL
        Oculo-cerebro-renal syndrome. A review.
        Am J Dis Child. 1968; 115: 145
        • Schoen EJ
        • Young G
        Lowe's syndrome. Abnormalities in renal tubular function in combination with other congenital defects.
        Am J Med. 1959; 27: 781
        • Richards W
        • Donnel GN
        • Wilson WA
        • et al.
        The oculo-cerebro-renal syndrome of Lowe.
        Am J Dis Child. 1965; 109: 185
        • Scriver CR
        • Chesney RW
        • McInnes RR
        Genetic aspects of renal tubular transport. Diversity and topology of carriers.
        Kidney Int. 1976; 9: 149
        • Clark CE
        • Henry WL
        • Epstein SE
        Familial prevalence and genetic transmission of idiopathic hypertrophic subaortic stenosis.
        N Engl J Med. 1973; 289: 709
        • Udani PM
        Physical growth of children in different socioeconomic groups.
        Indian J Child Health. 1963; 12: 593
        • Lemann Jr, J
        • Lennon EJ
        • Goodman AD
        • et al.
        The net balance of acid in subjects given large loads of acid or alkali.
        J Clin Invest. 1965; 44: 507
        • Lemann Jr, J
        • Litzow JR
        • Lennon EJ
        The effect of chronic acid loads in normal man. Further evidence for the participation of bone mineral in the defense against chronic metabolic acidosis.
        J Clin Invest. 1966; 45: 1608
        • Goodman AD
        • Lemann Jr, J
        • Lennon EJ
        • et al.
        Production, excretion, and net balance of fixed acid in patients with renal acidosis.
        J Clin Invest. 1965; 44: 495
        • Litzow JR
        • Lemann Jr, J
        • Lennon EJ
        The effect of treatment of acidosis on calcium balance in patients with chronic azotemic renal disease.
        J Clin Invest. 1967; 46: 280
        • Rampini S
        • Fanconi A
        • Illing R
        • et al.
        Effect of hydrochlorothiazide on proximal tubular acidosis in a patient with idiopathic “De Toni-Debre-Fanconi syndrome.”.
        Helv Pediatr Acta. 1968; 23: 13
        • Heidbreder E
        • Hennemann H
        • Heidland A
        • et al.
        Treatment of renal tubular acidosis and osteomalacia by salidiuretics.
        Lancet. 1973; 1: 52