Renal Fanconi syndrome in distal renal tubular acidosis
نویسندگان
چکیده
منابع مشابه
بررسی علل ژنتیکی ناشنوایی ارثی همراه با distal renal tubular acidosis در 10 خانواده ایرانی
نقص ناشنوایی به عنوان شایع ترین ناهنجاری حسی،1 نوزاد از هر 500 تولد را درگیر میکند. تخمین زده می شود حداقل 50% موارد ناشنوایی پیش زبانی در اثر تغییرات ژنتیکی ایجاد می شود که از این میان 30% آن به صورت سندرمی می باشد. ناشنوایی حسی-عصبی ارثی همراه با اسیدوز لوله های کلیوی دیستال در اثر جهش در زیر واحدهای b1 و a4 پمپ h+-atpase که توسط ژن های atp6v1b1(nm-001692) و atp6v0a4(nm-020632) کد می شوند، ای...
Prevalence of distal renal tubular acidosis in primary Sjögren's syndrome.
OBJECTIVES Our objectives were to analyse the prevalence of distal renal tubular acidosis (dRTA) in primary SS (pSS) and to compare a novel urinary acidification test with furosemide and fludrocortisone (FF) with the gold standard ammonium chloride (NH4Cl) to detect dRTA. METHODS Urinary acidification was assessed in 57 pSS patients using NH4Cl and FF. A urinary acidification defect was defin...
متن کاملAmelogenesis Imperfecta with Distal Renal Tubular Acidosis: A Novel Syndrome?
Amelogenesis imperfecta (AI) is a heterogeneous group of inherited dental enamel defects. It has rarely been reported in association with multiorgan syndromes and metabolic disorders. The metabolic disorders that have been reported in association with AI include hypocalciuria, impaired urinary concentrating ability, and Bartter-like syndrome. In literature, only three cases of AI and distal ren...
متن کاملRenal Tubular Acidosis Type 1: Distal Renal Tubular Acidosis (dRTA) in Children
Renal tubular acidosis type 1, also called distal renal tubular acidosis, is characterized by hyperchloremic metabolic acidosis, hypokalemia, hypercalciuria, hypocitraturia, and low urinary NH4. Its etiology is variable and includes sporadic, hereditary, and acquired forms. It should be differentiated from other forms of RTA and other causes of metabolic acidosis. Long-term alkali therapy is th...
متن کاملRenal Tubular Acidosis Type 1: Distal Renal Tubular Acidosis (dRTA) in Children
Renal tubular acidosis type 1, also called distal renal tubular acidosis, is characterized by hyperchloremic metabolic acidosis, hypokalemia, hypercalciuria, hypocitraturia, and low urinary NH4. Its etiology is variable and includes sporadic, hereditary, and acquired forms. It should be differentiated from other forms of RTA and other causes of metabolic acidosis. Long-term alkali therapy is th...
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ژورنال
عنوان ژورنال: Pediatric Nephrology
سال: 2017
ISSN: 0931-041X,1432-198X
DOI: 10.1007/s00467-017-3638-z