Edit concept Question Editor Create issue ticket

Renal Coloboma Syndrome

Renal-Coloboma Syndrome


Presentation

  • Here, we present three generations of a family with RCS with variable clinical presentations and features.[ncbi.nlm.nih.gov]
Splenectomy
  • To our knowledge, this is the first report of an ABO-incompatible living-donor renal transplant without a splenectomy performed in a patient with renal coloboma syndrome, a rare disorder caused by PAX2 gene mutations, and that presents with renal and[ncbi.nlm.nih.gov]
  • […] right ventricle. ( 23443859 ) GAPkAse G....SobacA G. 2013 10 Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26). ( 24032291 ) Aydin B....Okumus N. 2013 11 Successful ABO-Incompatible Living-Donor Renal Transplant Without Splenectomy[malacards.org]
Kidney Failure
  • Almost 10% of RCS patients had kidney failure at age 10, while that figure reached almost 20% by age 20.[otago.ac.nz]
  • Treatment Treatment Options: Kidney failure may require renal transplantation. Vesicoureteral reflex has been treated with ureteral reimplantation. Low vision aids may be beneficial in some patients. Renal hypertension requires treatment.[disorders.eyes.arizona.edu]

Workup

  • The diagnosis of coloboma by an ophthalmologist should prompt a careful systemic workup and family history. Support provided by the Eye Tumor Research Foundation, Philadelphia, PA (CLS). The authors have no financial interests to disclose.[retinatoday.com]
  • Gharavi and Anna Latos-Bielenska, The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1, Pediatric Nephrology, 29, 2, (257), (2014).[doi.org]
Bilateral Small Kidneys
  • Our patient had bilateral small kidneys with renal insufficiency which currently progressed to end stage renal failure at the age of 15.[jstage.jst.go.jp]
  • Abdominal ultrasound revealed bilateral small kidneys (left 8.5 cm, right 7 cm) but no other structural anomaly of the urinary tract. Family pedigree and mutational analysis. ( A ) The family pedigree is shown.[ncbi.nlm.nih.gov]
  • Abdominal ultrasound revealed bilateral small kidneys (left 8.5 cm, right 7 cm) but no other structural anomaly of the urinary tract. Fig. 1. Family pedigree and mutational analysis. ( A ) The family pedigree is shown.[academic.oup.com]
Gliosis
  • […] retina 0000541 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Percent of people who have these symptoms is not available through HPO Arnold-Chiari type I malformation 0007099 Autosomal dominant inheritance 0000006 Chorioretinal atrophy 0000533 Gliosis[rarediseases.info.nih.gov]
Foam Cell
  • Foam cells were noted in the interstitium. His CKD progressed to ERSD and he commenced haemodialysis at the age of 39 years. He had known congenital optic disc anomalies and papilloedema, as well as a left homonymous haemianopia.[ncbi.nlm.nih.gov]

Treatment

  • Treatment Treatment Options: Kidney failure may require renal transplantation. Vesicoureteral reflex has been treated with ureteral reimplantation. Low vision aids may be beneficial in some patients. Renal hypertension requires treatment.[disorders.eyes.arizona.edu]
  • Proteinuria remission was obtained by multidrug treatment. In both patients, a novel de novo mutation of PAX2 was detected, which leads to the substitution of a highly conserved cysteine (p.C52Y).[ncbi.nlm.nih.gov]
  • Treatment for macular schisis includes anti-VEGF injections to reduce fluid accumulation, while treatment for refractive error includes careful refraction and complete correction.[gavinpublishers.com]

Prognosis

  • Prognosis Prognosis depends primarily on appropriate specialized treatment. Renal failure can occur at any age requiring dialysis and renal transplantation. Formal longitudinal studies of visual prognosis have not been carried out.[orpha.net]
  • The prognosis worsens if the disorder is associated with concomitant cyanotic congenital heart disease, central nervous system anomalies, and esophageal atresia.[accessanesthesiology.mhmedical.com]
  • Prognosis [ 9 ] The prognosis for vision depends on the severity and location of the coloboma (particularly in relation to the optic nerve, macula and maculopapular bundle) and on any complications such as retinal detachment or amblyopia.[patient.info]
  • Treatment and follow-up The visual prognosis in individuals with morning glory disc anomaly is poor.[aao.org]
  • Treatment and prognosis The main clinical problem for patients with COACH syndrome is progressive portal hypertension and liver failure. Treatment aims to reduce symptoms and prevent complications.[radiopaedia.org]

Etiology

  • This finding provided the molecular confirmation of the patient's clinical diagnosis and showed that, in addition to point mutations, deletions of the PAX2 gene contribute to the etiology of the renal-coloboma syndrome.[ncbi.nlm.nih.gov]
  • Etiology Mutations in the PAX2 gene (10q24) have been identified in about 1/2 of patients with renal hypodysplasia and abnormalities of the optic nerve.[orpha.net]
  • However, advanced technologies have made it increasingly easier to differentiate between specific presentations and etiologies.[gavinpublishers.com]
  • Etiology Presently, no genes have been identified that cause COACH syndrome specifically. It is likely that alterations in multiple genes cause this condition.[radiopaedia.org]
  • Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Genet Med 2008; 10:301-305. 3. Schendel DE, Autry A, Wines R, Moore C.[dusunenadamdergisi.org]

Epidemiology

  • Summary Epidemiology Prevalence and prevalence at birth are not known. 177 mutation-positive cases (90 different families) have been reported. The number of mutation-negative individuals with clinical findings of RCS is not known.[orpha.net]
  • Relevant External Links for PAX2 Genetic Association Database (GAD) PAX2 Human Genome Epidemiology (HuGE) Navigator PAX2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PAX2 No data available for Genatlas for PAX2 Gene A common variant[genecards.org]
  • You can help by adding to it . ( July 2017 ) Epidemiology [ edit ] The frequency is unknown, but the disease is considered to be very rare. [5] References [ edit ] Barakat AY, D'Albora JB, Martin MM, Jose PA (July 1977).[en.wikipedia.org]
  • Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A. 2005;132:352-60. Karmous-Benailly H, Martinovic J, Gubler MC, et al.[rarediseases.org]
  • Epidemiology [ 1 ] The estimated incidence of coloboma is about 1 in 10,000 births. Coloboma is estimated to account for 3-11% of blindness in children worldwide. Aetiology [ 2 ] The eye develops in the embryo, from the optic cup and optic fissure.[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine.[books.google.de]
  • Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices.[books.google.com]
  • Using inducible conditional knockout mice, the pathophysiological roles of NFAT5 in normal and diseased kidney have been studied. 3.[medphas.kumamoto-u.ac.jp]
  • Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9): 620-627. Hufnagel RB, Arno G, Hein ND, et al.[rarediseases.org]
  • This work will help us better understand the pathophysiology of PRS and to dissect the molecular interactions important in normal PAX2 function.[doi.org]

Prevention

  • Prenatal testing is another possibility for prevention or awareness, and this can be done through molecular genetic testing or ultrasounds at later stages of pregnancy.[en.wikipedia.org]
  • Recent studies suggest that grade I or II reflux are unlikely to play a role in progressive kidney failure, whereas high-grade (III and IV) VUR may require surgical reimplantation of the ureters to correct the reflux, and therefore prevent the recurrence[otago.ac.nz]
  • The cause of the condition is unknown and currently, there are no methods to prevent this eye disorder Active research is being performed to explore the possibilities for the treatment and prevention of MGS What is the Prognosis of Morning Glory Syndrome[dovemed.com]
  • Treatment aims to reduce symptoms and prevent complications. The lack of oculomotor abnormalities and the episodic hiperpnea distinguish this syndrome from Joubert's syndrome. Promoted articles (advertising)[radiopaedia.org]
  • Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light.[icdlist.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!