Papillorenal syndrome risk factors
Overview
The pathophysiology and the risk factors for responsible for the development of Renal coloboma syndrome is mainly genetic and related to the expression of PAX 2 gene. So the genetic inheritance is the main risk factor and this genetic syndrome keeps on clustering in the future generations. The environmental risk factors that impacts the pregnancy like alcohol and some drugs may contribute to the development of Renal-coloboma syndrome. In conclusion it arises from the abnormal development of organs like kidney and eyes during the pregnancy period. The abnormal development of eyes usually happens in the third trimester during that time the eyes are formed. The abnormalities usually happen when there in failure of optic disc closure. It usually depends on which specific part or areas of optic fissure fails to close.
Risk factors
The pathophysiology and the risk factors for responsible for the development of Renal coloboma syndrome is mainly genetic and related to the expression of PAX 2 gene. So the genetic inheritance is the main risk factor and this genetic syndrome keeps on clustering in the future generations. The environmental risk factors that impacts the pregnancy like alcohol and some drugs may contribute to the development of Renal-coloboma syndrome. In conclusion it arises from the abnormal development of organs like kidney and eyes during the pregnancy period. The abnormal development of eyes usually happens in the third trimester during that time the eyes are formed. The abnormalities usually happen when there in failure of optic disc closure. It usually depends on which specific part or areas of optic fissure fails to close.
|
Papillorenal syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Papillorenal syndrome risk factors On the Web |
|
American Roentgen Ray Society Images of Papillorenal syndrome risk factors |
|
Risk calculators and risk factors for Papillorenal syndrome risk factors |
Coloboma or keyhole pupil might occurs all of sudden at its own during the pregnancy or it may be acquired. Some cases reported that even isolated coloboma are passed from one generation to another.
Prenatal care and diagnostic evaluation is possible for the cases where there is high index of suspicion or if there is clear cut family history of PAX2 gene mutation running in the family. This Renal-coloboma syndrome usually presents in autosomal dominant pattern with variations and complications due to other associated genetic manipulations like variable expression, genetic mosaicism and/or incomplete penetrance.
The eyes in the fetus develops during the first 3 months. Choroidal fissure forms the eye. This usually closes by the seventh week of pregnancy and failure of closure of this results in the development of coloboma. Usually affects one eye but at point seen affecting both eyes as well. There are different types of coloboma based on the structural and functional tissue of eye affected.
Lens coloboma- The missing part is the lens piece
Eyelid coloboma- The missing tissue here is part of upper or lower eyelids.
Optic nerve coloboma- Optic nerve is affected that results in the impairment of vision.
Uveal coloboma- If the coloboma affects the iris then it is given a special name called Cat-eye appearance.
Chorio-retinal coloboma- Retina is the missing part in this case.
Macular coloboma- The development of macula is abnormal in this case.
h.
The wide association between urinary tract malformations and dysplastic kidneys, known as CAKUT (Congenital Anomalies of the Kidney and Urinary Tract), could be caused by a single disorder of the embryonic development of the kidney and urinary tract. These complex patterns of development are under genetic control. A positive family history strongly suggests a genetic origin of these conditions. Linkage studies show an extreme genetic heterogenicity and an important phenotypic and clinical variability of the same mutation. Some urinary tract malformations have been investigated in the context of clinical syndromes. The renal-coloboma syndrome is an autosomal dominant human disease, secondary to mutation of the PAX2 transcription factor, characterized by optic nerve coloboma, renal anomalies and vesicoureteral reflux. However, most of the urinary tract anomalies can occur in isolation. Studies have shown the association of hereditary hydronephrosis with HLA antigens on chromosome 6 and the association of VUR with the mutations in a locus of chromosome 1. The higher frequency and severity of some uropathies in the male gender may be explained by a linkage-disequilibrium phenomenon or a X-linked transmission pattern. For example, the mutations in the AGTR2 gene on chromosome X were observed in animal models but not yet confirmed in human subjects. Finally, the ACE gene polymorphism is associated with a higher incidence of congenital hypo-dysplastic kidneys and represents a significant risk factor for the development of progressive