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...
Distal Tubular Dysfunction with Renal Calcification *
Since the initial description by Albright et al.' of the syndrome of diffuse renal calcification associated with changes in renal function, other similar cases have been reported." 2 4, 6 6,"11, '9 Metabolic balance studies"' have demonstrated that the altered renal function in this disease usually consists of an inability of the kidney to exchange hydrogen and ammonium ions for sodium so that ...
متن کاملIncomplete Distal Renal Tubular Acidosis with Nephrocalcinosis
We report the case of a female patient with incomplete distal renal tubular acidosis with nephrocalcinosis. She was admitted to the hospital because of acute pyelonephritis. Imaging studies showed dual medullary nephrocalcinosis. Subsequent evaluations revealed hypokalemia, hypocalcemia, hypercalciuria, and hypocitraturia with normal acid-base status. A modified tubular acidification test with ...
متن کاملDistal renal tubular acidosis with hereditary spherocytosis.
Hereditary spherocytosis (HS) and distal renal tubular acidosis (dRTA), although distinct entities, share the same protein i.e. the anion exchanger1 (AE1) protein. Despite this, their coexistence has been rarely reported. We hereby describe the largest family to date with co-existence of dRTA and HS and discuss the molecular basis for the co-inheritance of these conditions.
متن کاملHyperammonaemia with distal renal tubular acidosis.
The case is reported of an infant with hyperammonaemia secondary to severe distal renal tubular acidosis. A clinical association between increased concentrations of ammonia in serum and renal tubular acidosis has not previously been described. In response to acidosis the infant's kidneys presumably increased ammonia synthesis but did not excrete ammonia, resulting in hyperammonaemia. The patien...
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ژورنال
عنوان ژورنال: Human Care Journal
سال: 2020
ISSN: 2528-665X,2685-5798
DOI: 10.32883/hcj.v5i1.609