Genetic and long-term data on a patient with permanent isolated proximal renal tubular acidosis

European Journal of Pediatrics

Volumn 159, Issue 12, 2000, Pages 892-894

  Shiohara, Masaaki ^a   Igarashi, Takashi ^b   Mori, Tetsuo ^a   Komiyama, Atsushi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

Author keywords

Alkali therapy; Growth; Permanent isolated proximal renal tubular acidosis

Indexed keywords

ALKALI; BICARBONATE;

ARTICLE; BODY HEIGHT; CASE REPORT; CATARACT; CHILD; FEMALE; GENE MUTATION; GLAUCOMA; HUMAN; KERATOPATHY; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE ACIDOSIS; METABOLIC ACIDOSIS; PRIORITY JOURNAL; SHORT STATURE;

EID: 0033695619     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/PL00008363     Document Type: Article

References (10)

1. A case of bicarbonate-losing renal tubular acidosis with defective carboanhydrase activity
2. Persistent isolated proximal renal tubular acidosis - A systemic disease with a distinct clinical entity
3. Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities
4. Attainment and maintenance of normal stature with alkali therapy in infants and children with classical renal tubular acidosis
5. Renal tubular acidosis in infants and children
6. Renal tubular acidosis
7. Renal tubular acidosis
8. Renal tubular acidosis
9. Proximal renal tubular acidosis. A defect in bicarbonate reabsorption with normal urinary acidification
10. Congenital persistent proximal type renal tubular acidosis in two brothers