Proteinuric glomerulopathy in an adolescent with a distal partial trisomy chromosome 1

CEN Case Reports
Takaya SasakiTakashi Yokoo

Abstract

We report a case of distal partial trisomy 1 from q32.1 to 41 that have exhibited proteinuric glomerulopathy. The patient was a 17-year-old adolescent with clinical features of low birth weight, mild mental retardation and mild deafness, from the birth. He exhibited non-nephrotic range proteinuria with the mild obesity since the age of sixteen. Image studies did not reveal morphological abnormalities of the kidneys. Renal biopsy findings showed no definitive evidence of primary glomerular diseases, and were characterized by a very low glomerular density, glomerulomegaly and focal effacement of podocyte foot processes. Therapies with dietary sodium restriction, body weight reduction and the administration of angiotensin receptor blocker markedly reduced his proteinuria. It was likely that mismatch between congenital reduction in the nephron number and catch-up growth of the whole body size played a major role in the development of glomerular hyperperfusion injury. At present, the direct contribution of genetic factors due to this chromosomal disorder to such a substantial reduction in the nephron number remains uncertain.

References

Jun 1, 1979·Clinical Genetics·S Flatz, C Fonatsch
Jul 2, 2003·American Journal of Medical Genetics. Part a·Małgorzata J M NowaczykJie Xu
Apr 28, 2005·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Maria M RodriguezGastón Zilleruelo
Apr 15, 2008·Current Opinion in Nephrology and Hypertension·Wendy E HoyMichael D Hughson
Feb 28, 2009·American Journal of Medical Genetics. Part a·Meena BalasubramanianNicki Foulds
Apr 3, 2009·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Sarah L WhiteRachel R Huxley
Apr 5, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Przemko KwintaJacek Jozef Pietrzyk
Jun 4, 2011·Journal of the American Society of Nephrology : JASN·Megan R SutherlandM Jane Black
Mar 10, 2012·Clinical Journal of the American Society of Nephrology : CJASN·Nobuo TsuboiTatsuo Hosoya
Feb 20, 2014·Clinical Transplantation·Danielle BerglundHassan N Ibrahim
Jan 30, 2015·American Journal of Hypertension·Kotaro HaruharaTakashi Yokoo
Jan 20, 2016·American Journal of Medical Genetics. Part a·Satoshi WatanabeTatsuro Kondoh
Mar 30, 2016·Molecular Syndromology·Marcos L M MorrisJuliana F Mazzeu
May 24, 2016·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Tsuyoshi IsojimaMitsunori Murata
Mar 25, 2017·Clinical Journal of the American Society of Nephrology : CJASN·Kentaro KoikeTakashi Yokoo
Aug 12, 2016·KI Reports·Yusuke OkabayashiTakashi Yokoo

❮ Previous
Next ❯

Citations

May 31, 2019·Journal of Tissue Engineering and Regenerative Medicine·Sophia FernandesLalita Limaye

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
Hui-Mei ChenLei-Shi Li
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
Nobuo TsuboiTatsuo Hosoya
Archives of Disease in Childhood
A D MCDONALD
American Journal of Mental Deficiency
R E FalkR S Sparkes
© 2022 Meta ULC. All rights reserved