Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis
نویسندگان
چکیده
منابع مشابه
Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis.
Proximal renal tubular acidosis associated with ocular abnormalities such as band keratopathy, glaucoma, and cataracts is caused by mutations in the Na(+)-HCO(3)(-) cotransporter (NBC-1). However, the mechanism by which NBC-1 inactivation leads to such ocular abnormalities remains to be elucidated. By immunological analysis of human and rat eyes, we demonstrate that both kidney type (kNBC-1) an...
متن کاملFunctional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.
Mutations in the Na+-HCO3- co-transporter (NBC1) cause permanent proximal renal tubular acidosis (pRTA) with ocular abnormalities. However, little has been known about the relationship between the degree of NBC1 inactivation and the severity of pRTA. This study identified three new homozygous mutations (T485S, A799V, and R881C) in the common coding regions of NBC1. Functional analysis of these ...
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Proximal renal tubular acidosis (pRTA) results from an impairment of bicarbonate (HCO(3)(-)) reabsorption in the renal proximal tubules and is characterized by a decreased renal HCO(3)(-) threshold. Proximal RTA most commonly occurs in association with multiple defects of proximal tubular transport (renal Fanconi syndrome). Although much more rare, pRTA may occur without other functional defect...
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The discovery of a case of renal tubular acidosis and fibrosing alveolitis led to the investigation of 19 further patients. Abnormal pulmonary function tests were found in a further four patients with overt renal tubular acidosis and in four out of eight patients with "incomplete" renal tubular acidosis. The response to an ammonium chloride test in seven patients with cryptogenic fibrosing alve...
متن کاملRenal Tubular Acidosis Type 2 and 3: Proximal Renal Tubular Acidosis (pRTA) and Combined Proximal and Distal RTA in Children
Renal tubular acidosis (RTA) type 2, also called proximal renal tubular acidosis, is characterized by hyperchloremic metabolic acidosis due to impaired reabsorption of bicarbonate (HCO3) in proximal tubules. It can be due to isolated defect or part of generalized defect (Fanconi syndrome). Rickets/Osteomalacia is more common and treatment is usually difficult. RTA type 3 is designated when comb...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2001
ISSN: 0021-9738
DOI: 10.1172/jci200111869