A case of distal renal tubular acidosis, Southeast Asian ovalocytosis and possible fluorosis.
نویسندگان
چکیده
A 39-year old man had periodic paralysis due to hypokalaemia. Investigations led to the diagnosis of distal renal tubular acidosis (dRTA) and Southeast Asian ovalocytosis (SAO). Both can originate in mutations of the anion-exchanger 1 gene (AE1), which codes for band 3, the bicarbonate/chloride exchanger in both the red cell membrane and the basolateral membrane of the collecting tubule alpha-intercalated cell. The finding of diffuse osteosclerosis led to the suspicion of coexisting fluorosis.
منابع مشابه
Dominant-negative effect of Southeast Asian ovalocytosis anion exchanger 1 in compound heterozygous distal renal tubular acidosis.
The human chloride/bicarbonate AE1 (anion exchanger) is a dimeric glycoprotein expressed in the red blood cell membrane,and expressed as an N-terminal (Delta1-65) truncated form, kAE1(kidney AE1), in the basolateral membrane of alpha-intercalated cells in the distal nephron. Mutations in AE1 can cause SAO (Southeast Asian ovalocytosis) or dRTA (distal renal tubular acidosis), an inherited kidne...
متن کاملTrafficking defects of the Southeast Asian ovalocytosis deletion mutant of anion exchanger 1 membrane proteins.
Human AE1 (anion exchanger 1) is a membrane glycoprotein found in erythrocytes and as a truncated form (kAE1) in the BLM (basolateral membrane) of a-intercalated cells of the distal nephron, where they carry out electroneutral chloride/bicarbonate exchange. SAO (Southeast Asian ovalocytosis) is a dominant inherited haematological condition arising from deletion of Ala400-Ala408 in AE1, resultin...
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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 کاملMolecular Approach for Distal Renal Tubular Acidosis Associated AE1 Mutations
The molecular approaches to distal renal tubular acidosis (dRTA) associated AE1 mutations lead us to understand the genetic and pathophysiological aspects of the acidification defects. An unanticipated high value of the urine-blood (U-B) PCO(2) after NaHCO(3) loading observed in a case of dRTA and southeast Asian ovalocytosis (SAO) might be from a mistarget of the AE1 to the luminal membrane of...
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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...
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عنوان ژورنال:
- The Ceylon medical journal
دوره 54 1 شماره
صفحات -
تاریخ انتشار 2009