Carbonic anhydrase II deficiency: report of a novel mutation
نویسندگان
چکیده
منابع مشابه
Carbonic anhydrase II deficiency a novel mutation.
Carbonic anhydrase II (CA II) deficiency is an extremely rare autosomal recessive disorder, characterised by a triad of osteopetrosis, renal tubular acidosis and cerebral calcifications. A 12 year old boy with classical features of CA II deficiency is reported who was found to be homozygous for the mutation in CA II gene and parents were heterozygous for the same mutation .To the best of our kn...
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OBJECTIVE Carbonic anhydrase (CA) II deficiency is a rare autosomal recessive disorder caused by mutation in the CA II gene that leads to osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification. Our aim is to present a patient with the classic triad of CA II deficiency syndrome to enhance the awareness about this rare syndrome. METHODS We describe the clinical and radiological...
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Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including osteopetrosis, renal tubular acidosis and brain calcifications. We describe the neurological, neuro-ophthalmological and neuroradiological features of 23 individuals (10 males, 13 females; ages at final examination 2-29 years) from 10 unrelated consanguineous families with ...
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Carbonic anhydrase II (CAII) is expressed along the nephron where it interacts with a number of transport proteins augmenting their activity. Aquaporin-1 (AQP1) interacts with CAII to increase water flux through the water channel. Both CAII and aquaporin-1 are expressed in the thin descending limb (TDL); however, the physiological role of a CAII-AQP1 interaction in this nephron segment is not k...
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A 7‐year, 10‐month‐old boy, product of a consanguineous marriage, presented with short stature and a recent fracture of left forearm following a trivial trauma. There was no significant family history. His height was 103 cm (−3.7 standard deviation) [Table 1]. He had dysmorphic facies such as prominent forehead, thick lower lip, and blue sclera. He had 24 teeth; his temporary teeth had not shed...
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ژورنال
عنوان ژورنال: CEN Case Reports
سال: 2015
ISSN: 2192-4449
DOI: 10.1007/s13730-015-0205-y