گزارش یک مورد آلکاپتونوری (alkaptonuria)

گزارش یک مورد آلکاپتونوری (Alkaptonuria)

Âlkaptonuria is a very rare hereditary disease with the liver enzyme homogentisic oxidase deficiency which is the result of accumulation of homogentisic acid in tissues along with excretion in urine in large quantities. Ôchronosis is clinical expression of alkaptonuria with the symptoms on the visceral organ, articular and connective tissues. The patient was a middle-aged man with prolo...

یک مورد بیمار مبتلا به اکرونوز یا آلکاپتونوری

Alkaptonuria.

Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in co...

گزارش یک مورد فنوتیپ نادر Rh--D: یک گزارش مورد

Background and Objective: Of all blood group systems, RH is one of the most important blood groups, which its compatibility is one of the essential principals of transfusion. Two genes (RhD and RhCE) locate on chromosome 1, and encode the Rh proteins. RhD is an immunogenic antigen. We describe a rare Rh phenotype D-- in this report. Case Report: A forty- nine- year- old man, who receiv...

گزارش یک مورد استئوپتروزیس

Osteopetrosis is a rare metabolic bone disease characterized by generalized increase in skeletal mass. About 500 cases have been described in the literature. This disorder presents. In one of three forms: Osteopetosis Tarda , Osreopetrosis Congenital and “marble bone” disease. Osteopetrosis congentia results in bone marrow failur and is almost always fatal. Marble bone disease causes short st...

گزارش یک مورد بیماری

Angina bullosa Haemorrhagica (ABH) is a term that was first introduced by Badham in 1967 to describe a bullous disorder in which recurrent oral blood blisters appear in the absence of any identifiable systemic disorder. It is a disorder restricted to the oral mucosa characterized by the formation of blood blisters on slight trauma in the absence of blood dyscrasia, vesiculobullous disease or ot...