scholarly journals AFGHAN MUTATION OF CA-II GENE

2016 ◽  
Vol 23 (06) ◽  
pp. 756-759
Author(s):  
Anila Faisal ◽  
Amarah Kiani ◽  
Ahsen Farooq
Keyword(s):  
Carbonic Anhydrase ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Male Child ◽  
Medical Community ◽  
Allogeneic Bone ◽  
Carbonic Anhydrase Ii Deficiency ◽  
Collecting Ducts ◽  
Renal Tubular ◽  
Marrow Stem Cell

Carbonic anhydrase-II deficiency is an autosomal recessive disorder groundedon a triad of cerebral calcification, osteopetrosis and renal tubular acidosis away in whichproximal tubules, distal collecting ducts or combined.1 Other features include growth andmental retardation along with the complications of osteopetrosis.2 The only treatment to curethe calcification is allogeneic bone marrow stem cell replacement; however it does not have anyconsiderable effect on the renal lesions3 We report a case of a 3 week old male child of Afghanorigin with all these features who was clinically diagnosed as having carbonic anhydrase type IIdeficiency however unfortunately the baby passed during cranioplasty and genetic testing forenzyme deficiency could not be done. Our aim to present this case of a male child of Afghanorigin is to enhance the awareness about this rare syndrome in our medical community andinviting further research for a possible Afghan mutation of CA-II gene.

scholarly journals Carbonic Anhydrase II Deficiency in a Saudi Woman

2015 ◽  
Vol 8 ◽  
pp. CCRep.S16897 ◽  
Author(s):  
Omar N. Alhuzaim ◽  
Ohoud M. Almohareb ◽  
Safiya M. Sherbeeni
Keyword(s):  
Carbonic Anhydrase ◽  
Dna Analysis ◽  
Early Recognition ◽  
Autosomal Recessive Disorder ◽  
Deficiency Syndrome ◽  
Sequence Variant ◽  
Appropriate Treatment ◽  
Carbonic Anhydrase Ii Deficiency ◽  
Renal Tubular ◽  
The Brain

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 findings of a Saudi woman patient with CA II deficiency syndrome. Results A Saudi woman in her 20s presented to our hospital for evaluation of increased bone density. She was known to have delayed developmental milestone with growth retardation and poor scholastic performance. She had multiple fragile fractures started at the age of 15 involving the lower extremities. A physical examination revealed dysmorphic features and intellectual disability with intelligence quotient (IQ) of 36. The initial blood workup showed a picture of distal RTA with hypokalemia, and the radiological imaging confirmed the presence of osteopetrosis and multiple kidney stones. The combination of osteopetrosis with RTA raised the possibility of CA II deficiency. Therefore, computed tomography (CT) of the brain was done and showed intracranial calcification involving the basal ganglia. She was started on potassium chloride and sodium bicarbonate. In addition, she underwent right-sided percutaneous nephrolithotripsy. Her DNA analysis came to show a sequence variant c.232+1G>A, which was detected in both of the CA II genes (homozygous). Conclusion Early recognition of the disease is a key, as an early appropriate treatment institution is essential in order to prevent further complications.

scholarly journals Congenital Amegakaryocytic Thrombocytopenia: A Brief Review of the Literature

2010 ◽  
Vol 3 ◽  
pp. CPath.S4972 ◽  
Author(s):  
Fatma S. Al-Qahtani
Keyword(s):  
Bone Marrow ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Primary Treatment ◽  
Bleeding Complications ◽  
Type I ◽  
Cell Transplant ◽  
Missense Mutations ◽  
Severe Type ◽  
Marrow Stem Cell

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited autosomal recessive disorder that presents with thrombocytopenia and absence of megakaryocytes. It presents with bleeding recognized on day 1 of life or at least within the first month. The cause for this disorder appears to be a mutation in the gene for the thrombopoeitin (TPO) receptor, c-Mpl, despite high levels of serum TPO. Patients with severe Type I-CAMT carry nonsense Mpl mutations which causes a complete loss of the TPO receptor whereas those with Type II CAMT carry missense mutations in the Mpl gene affecting the extracellular domain of the TPO receptor. Differential diagnosis for severe CAMT includes thrombocytopenia with absent radii (TAR) and Wiskott-Aldrich syndrome (WAS). The primary treatment for CAMT is bone marrow transplantation. Bone Marrow/Stem Cell Transplant (HSCT) is the only thing that ultimately cures this genetic disease. Newer modalities are on the way, such as TPO-mimetics for binding towards partially functioning c-Mpl receptors and gene therapy. Prognosis of CAMT patients is poor, because all develop in childhood a tri-linear marrow aplasia that is always fatal when untreated. Thirty percent of patients with CAMT die due to bleeding complications and 20% -due to HSCT if it has been done.

Carbonic Anhydrase II Deficiency Syndrome: Recessive Osteopetrosis With Renal Tubular Acidosis and Cerebral Calcification

PEDIATRICS ◽  
1986 ◽  
Vol 77 (3) ◽  
pp. 371-381
Author(s):  
Arne Ohlsson ◽  
William A. Cumming ◽  
Adrien Paul ◽  
William S. Sly
Keyword(s):  
Carbonic Anhydrase ◽  
Renal Tubular Acidosis ◽  
Neonatal Period ◽  
Growth Failure ◽  
Deficiency Syndrome ◽  
Carbonic Anhydrase Ii ◽  
Cerebral Calcification ◽  
Restrictive Lung Disease ◽  
Carbonic Anhydrase Ii Deficiency ◽  
Renal Tubular

Four new Saudi Arabian cases of the carbonic anhydrase II deficiency syndrome from two families are described. This autosomal recessive syndrome includes osteopetrosis with renal tubular acidosis and cerebral calcification. Additional features are mental retardation, growth failure, typical facial appearance, and abnormal teeth. Two patients showed evidence of restrictive lung disease, a finding not previously described. One of the patients reported represents the first neonate reported to be affected with this syndrome. Intrauterine growth was normal, but metabolic acidosis was already evident in the neonatal period. Radiographic evidence of osteopetrosis was probably absent at birth but appeared during the late neonatal period. Carbonic anhydrase II deficiency was demonstrated in erythrocyte hemolysates from the older two siblings of this neonate, and a 50% normal level of carbonic anhydrase II was demonstrated in the erythrocyte hemolysate from their father.

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