Erratum to “Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness”

نویسندگان

  • Nikki Rink
  • Martin Bitzan
  • Gus O'Gorman
  • Mato Nagel
  • Elena Torban
  • Paul Goodyer
چکیده

In the paper titled " Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness, " all the authors' names and surnames are in a reverse order.

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منابع مشابه

Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness

Hereditary distal renal tubular acidosis (dRTA) is caused by mutations of genes encoding subunits of the H(+)-ATPase (ATP6V0A4 and ATP6V1B1) expressed in α-intercalated cells of the distal renal tubule and in the cochlea. We report on a 2-year-old girl with distal RTA and profound speech delay which was initially misdiagnosed as autism. Genetic analysis showed compound heterozygous mutations wi...

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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...

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A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule

The V-ATPase is a multisubunit complex that transports protons across membranes. Mutations of its B1 or a4 subunit are associated with distal renal tubular acidosis and deafness. In the kidney, the a4 subunit is expressed in intercalated cells of the distal nephron, where the V-ATPase controls acid/base secretion, and in proximal tubule cells, where its role is less clear. Here, we report that ...

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Distal 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...

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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...

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عنوان ژورنال:

دوره 2013  شماره 

صفحات  -

تاریخ انتشار 2013