Alkaptonuria, a new association of distal renal tubular acidosis
نویسندگان
چکیده
منابع مشابه
Hypokalemic quadriparesis and rhabdomyolysis as a rare presen-tation of distal renal tubular acidosis
Distal renal tubular acidosis is a syndrome of abnormal urine acidification and is characterized by hyperchloremic metabolic acidosis, hypokalemia, hypercalciurea, nephrocalcinosis and nephrolithiasis. Despite the presence of persistent hypokalemia, acute muscular paralysis is rarely encountered in males.Here, we will report an eighteen year old male patient who presented with flaccid quadrip...
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 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: Saudi Journal of Kidney Diseases and Transplantation
سال: 2018
ISSN: 1319-2442
DOI: 10.4103/1319-2442.239645