Renal tubular dysgenesis ..., (renal tubular dysgenesis) - Genes ACE, AGT, and AGTR1 REN.
The tubular renal dysgenesis is a serious kidney disorder characterized by abnormal kidney development before birth. Specifically the proximal renal tubules are absent or underdeveloped. These structures help absorb nutrients, water, and other blood products and excrete everything else in the urine. No tubules functional proximal, the kidneys can not remove (anuria), and occurs a decrease of amniotic fluid (oligohydramnios). The amniotic fluid helps cushion and protect the fetus and plays an important role in the development of many organs, including the lungs.
This causes a number of disorders that include distinct facial features, such as a large, flat nose, low set ears, excess skin, feet turned inwards and upwards and underdeveloped lungs. Signs and symptoms of the disease include hypertension, abnormal development of the skull bones that form the fontanelle. Affected fetuses often die before birth, stillborn or die shortly after birth from respiratory failure. Rarely, with treatment, affected individuals survive infancy. His blood pressure is usually normal, but quickly develop chronic kidney disease, characterized by reduced renal function worsens over time.
This process is due to mutations in the ACE (17q23.3), AGT (1q42.2), AGTR1 (3q24) or REN (1q32) genes. These genes are involved in the regulation of blood pressure and fluid balance and salts in the body, playing a role in kidney development before birth.
They have identified at least 33 mutations in the ACE gene, 6 mutations in the AGT gene, 4 mutations in the gene AGTR1 and 11 mutations in the gene causing REN tubular renal dysgenesis. Mutations in these genes impair the production or function of angiotensin II, leading to a renin-angiotensin system nonfunctional. Without this system, the kidneys can not control blood pressure. Because of the low blood pressure, blood flow is reduced and fetal tissues are deprived of oxygen during development. As a result, the development of kidney deteriorates, leading to the characteristics of the disease.
The tubular renal dysgenesis is inherited as an autosomal recessive pattern, which means that both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with renal tubular dysgenesis, by complete PCR amplification of exons of the ACE, AGT, and REN AGTR1 respectively genes and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).