Steinstrasse due to distal renal tubular acidosis with sensorineural deafness.
نویسنده
چکیده
Keywords: distal renal tubular acidosis, hypercalciuria; His urinary calcium excretion ranged from 2.8 to 4.1 mg/kg per day. No glucosuria, hyperaminoaciduria nerve deafness; nephrocalcinosis; Steinstrasse or hyperphosphaturia were found. After diagnosis of DRTA with nerve deafness, the patient was maintained on oral treatment with sodium bicarbonate at a dose
منابع مشابه
Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness.
Distal renal tubular acidosis (RTA) with sensorineural deafness is a rare entity, inherited in an autosomal recessive manner. It is caused by mutations in the ATP6V1B1 gene, leading to defective function of H+-ATPase pump in the distal nephron, cochlea and endolymphatic sac. We report two siblings with distal RTA and sensorineural deafness having mutation in the first coding exon of the gene, r...
متن کاملRenal tubular acidosis with nerve deafness.
Renal tubular acidosis (RTA) is a non -uraemic clinical syndrome of disordered renal acidification.1 In the classic distal RTA (Type 1), subjects have hyperchloraemic acidosis, hyponatraemia and hypokalaemia. The urinary pH remains high (pH > 6.2), even in the presence of systemic acidosis. Although the defect is permanent, the prognosis is good when the diagnosis, with correct management, is e...
متن کاملDistal Renal Tubular Acidosis with Grade 4 Vesicoureteral Reflux in a Child with Single Kidney
Introduction Renal tubular acidosis (RTA) is a non-uremic defects of urinary acidification. It is characterized by a normal anion gap hyperchloremic metabolic acidosis; plasma potassium may be normal, low or high-depending on the type of RTA. These syndromes differ from uremic acidosis which is associated with a high anion gap, decreased glomerular filtration with enhanced proton secretion b...
متن کاملDistal Renal Tubular Acidosis Screening by Urinary Acidification Testing in Mexican Children.
BACKGROUND Primary distal renal tubular acidosis is a clinical disorder characterized by hyperchloremic metabolic acidosis, hypercalciuria, hypocitraturia, urinary acidification impairment, hypokalemia, metabolic bone disease, and nephrocalcinosis. Urinary acidification ability may be evaluated by an acidification test or maximum urinary pCO2 assessment with alkaline urine. The maximum urinary ...
متن کاملAcidose tubulaire rénale distale primitive Primary distal renal tubular acidosis
Renal tubular acidosis are forms of metabolic acidosis characterized by an impairment of urinary acidification due to a lack of urine excretion of protons or loss of bicarbonates. Primary distal renal acidosis (dRTA) is characterized by hyperchloremic metabolic acidosis due to failure in proton excretion, variably severe nephrocalcinosis and/or nephrolithiasis associated with hypercalciuria and...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
دوره 15 8 شماره
صفحات -
تاریخ انتشار 2000