scholarly journals Calciphylaxis Involving Both the Upper and Lower Extremities

2004 ◽  
Vol 47 (4) ◽  
pp. 277-279
Author(s):  
Tulay Ozer ◽  
Ali Borazan ◽  
Mubin Hosnuter ◽  
Eksal Kargi ◽  
Ahmet Savranlar ◽  
...  
Keyword(s):  
Type Ii Diabetes ◽  
Lower Extremities ◽  
Type Ii Diabetes Mellitus ◽  
Rapid Progression ◽  
Small Vessels ◽  
Upper And Lower Extremities ◽  
Phosphate Product ◽  
Stage Renal Disease ◽  
End Stage ◽  
Very High

Calciphylaxis is an uncommon complication of end stage renal disease (ESRD) and secondary hyperparathyroidism. It characterized by cutaneous necrosis with mural calcifications and thrombosis in the small vessels of dermis. It is important to diagnose and treat, because of mortality rate from calciphylaxis is very high. We present the case of a patient with ESRD and type II diabetes mellitus developing calciphylaxis of the both upper and lower extremities had normal corrected calcium-phosphate product level. After amputation, necrosis was showed rapid progression resulting in death in one month.

A Fatal Case of Necrotizing Fasciitis Caused by Serratia marcescens

2005 ◽  
Vol 71 (3) ◽  
pp. 228-230 ◽  
Author(s):  
Christopher E. Curtis ◽  
Stefan Chock ◽  
Terrance Henderson ◽  
Michael J. Holman
Keyword(s):  
Necrotizing Fasciitis ◽  
Serratia Marcescens ◽  
Type Ii Diabetes ◽  
Pressure Support ◽  
Fatal Case ◽  
Type Ii Diabetes Mellitus ◽  
Aggressive Management ◽  
History Of ◽  
Stage Renal Disease ◽  
End Stage

A patient with a history of type II diabetes mellitus (DM), end stage renal disease (ESRD), and congestive heart failure (CHF) developed necrotizing fasciitis caused by Serratia marcescens after scraping his leg on rocks in a river while fishing. Aggressive management with surgical debridement, antibiotics, and pressure support was unsuccessful.

scholarly journals Novel Haplotype Indicator for End-Stage Renal Disease Progression among Saudi Patients

2019 ◽  
Vol 2019 ◽  
pp. 1-6
Author(s):  
Cyril Cyrus ◽  
Shahanas Chathoth ◽  
Chittibabu Vatte ◽  
Nafie Alrubaish ◽  
Othman Almuhanna ◽  
...  
Keyword(s):  
Renal Disease ◽  
End Stage Renal Disease ◽  
Haplotype Analysis ◽  
Taqman Assay ◽  
Rapid Progression ◽  
High Morbidity ◽  
Glomerular Diseases ◽  
Increased Risk ◽  
Stage Renal Disease ◽  
End Stage

Background. End-stage renal disease (ESRD) is the result of hypertensive nephrosclerosis and chronic glomerular diseases and is associated with high morbidity and mortality. There are strong heritable components in the manifestation of the disease with a genetic predisposition to renal disorders, including focal segmental glomerulosclerosis and arterionephrosclerosis. Recent studies in genetics have examined modifiable risk factors that contribute to renal disease, and this has provided a deep insight into progressive kidney disease. Single-nucleotide polymorphisms at the proximity of SHROOM3, CST3, SLC7A9, and MYH9 genes have been associated with an increased risk of developing CKD and ESRD. Methods. A total of 160 CKD patients and 189 control subjects of Saudi origin participated in the study. Eight polymorphisms (SHROOM3-rs9992101, rs17319721; SLC7A9-rs4805834; MYH9-rs4821480, rs4821481, rs2032487, rs3752462; CST3-rs13038305) were genotyped using TaqMan assay, and the haplotype analysis was done using the HaploView 4.2 software. Results. Haplotype analysis revealed a novel haplotype “E6”-GTTT to be associated significantly with an increased risk for ESRD (p=0.0001) and CKD (p=0.03). Conclusion. CKD is often silent until symptomatic uremia during the advanced stages of the disease. The newly identified haplotype will help recognize patients at risk for a rapid progression of CKD to ESRD. Accurate detection and mapping of the genetic variants facilitates improved risk stratification and development of improved and targeted therapeutic management for CKD.

scholarly journals A Case of Immunotactoid Glomerulopathy with Rapid Progression to End-Stage Renal Disease

2009 ◽  
Vol 9 ◽  
pp. 1348-1354 ◽  
Author(s):  
Shikha Jain ◽  
Darshika Chhabra
Keyword(s):  
Acute Kidney Injury ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Kidney Injury ◽  
Initial Presentation ◽  
Rapid Progression ◽  
First Case ◽  
Immunotactoid Glomerulopathy ◽  
Stage Renal Disease ◽  
End Stage

Immunotactoid glomerulopathy (IGN) is a rare immunoglobulin deposition disease. It is often mistaken for cryoglobulinemia or amyloidosis due to the similarities on biopsy findings. The disease progresses to end-stage renal disease (ESRD) within 7 months to 10 years. This is the first case reported of a patient with a diagnosis of IGN who developed acute kidney injury (AKI) and ESRD within 1 week of initial presentation.

scholarly journals Acute Progression of Adult-Onset Atypical Hemolytic-Uremic Syndrome due to CFH Mutation: A Case Report

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Bartlomiej Posnik ◽  
Dorota Sikorska ◽  
Krzysztof Hoppe ◽  
Krzysztof Schwermer ◽  
Krzysztof Pawlaczyk ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Late Onset ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Genetic Mutation ◽  
Current Data ◽  
Factor H ◽  
Rapid Progression ◽  
Uremic Syndrome ◽  
Stage Renal Disease ◽  
End Stage

Atypical hemolytic-uremic syndrome (aHUS), unlike typical HUS, is not due to bacteria but rather to an idiopathic or genetic cause that promotes dysregulation of the alternative complement pathway. It leads to hemolytic anemia, thrombocytopenia, and renal impairment. Although aHUS secondary to a genetic mutation is relatively rare, when occurring due to a mutation in Factor H (CFH), it usually presents with younger onset and has a more severe course, which in the majority ends with end-stage renal failure. Paradoxically to most available data, our case features acute aHUS due to a CFH mutation with late onset (38-year-old) and rapid progression to end-stage renal disease. Due to current data indicating a high risk of graft failure in such patients, the diagnosis of aHUS secondary to a genetic cause has disqualified our patient from a living (family) donor renal transplantation and left her with no other option but to begin permanent renal replacement therapy.

scholarly journals Impact of Selectin Gene Polymorphisms on Rapid Progression to End-Stage Renal Disease in Patients with IgA Nephropathy

2006 ◽  
Vol 45 (16) ◽  
pp. 947-951 ◽  
Author(s):  
Yusuke Watanabe ◽  
Tsutomu Inoue ◽  
Hirokazu Okada ◽  
Shuhei Kotaki ◽  
Yoshihiko Kanno ◽  
...  
Keyword(s):  
Renal Disease ◽  
Iga Nephropathy ◽  
End Stage Renal Disease ◽  
Gene Polymorphisms ◽  
Rapid Progression ◽  
Stage Renal Disease ◽  
End Stage

Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy

2020 ◽  
pp. jmedgenet-2020-107184
Author(s):  
Xiaoshan Tang ◽  
Cuihua Liu ◽  
Xiaorong Liu ◽  
Jing Chen ◽  
Xiaoyan Fan ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Elevated Serum ◽  
Gene Mutations ◽  
Joubert Syndrome ◽  
Observation Time ◽  
Rapid Progression ◽  
Pathogenic Genes ◽  
The Mean ◽  
Stage Renal Disease ◽  
End Stage

BackgroundNephronophthisis-related ciliopathies (NPHP-RC) account for the majority of cases of monogenetically caused end-stage renal disease (ESRD) in children. Exploring the correlation between the phenotype and genotype of NPHP-RC is helpful for early diagnosis and management. We investigated the phenotype and genotype spectra of NPHP-RC in a Chinese multicentre cohort.MethodsCrosss-ectional and longitudinal data of 60 patients from 57 families with pathogenic NPHP-RC gene mutations distributed in 22 regions of China were collected into a unified, anonymous database. The mean observation time of this cohort was 3.5±3.1 years.ResultsMutations in NPHP1 and NPHP3 were the most common genetic defects. Overall, 45% of patients presented with isolated nephronophthisis (NPH), and 55% exhibited the extrarenal phenotype, which frequently involved the liver (41.7%, n=25), central nervous system (26.7%, n=16), eyes (26.7%, n=16) and skeletal system (11.7%, n=7). Accidental detection of elevated serum creatinine and non-specific symptoms caused by chronic kidney disease occurred in 65% of patients. Patients carrying NPHP1 mutations mainly presented with isolated NPH (90%, 18/20) and progressed to ESRD at a mean age of 12.9±0.5 years. The mean age of ESRD onset in the non-NPHP1 group was lower than that in the NPHP1 group (6.2±1.4 years, p<0.001), especially for patients carrying NPHP3 mutations (3.1±1.2 years), showing a heterogeneous phenotype characterised by Bardet-Biedl syndrome (12.5%, n=5), Joubert syndrome (7.5%, n=3), COACH syndrome (2.5%, n=1), Mainzer-Saldino syndrome (2.5%, n=1), short-rib thoracic dysplasia (2.5%, n=1) and unclassified symptoms (32.5%, n=13).ConclusionsThe Chinese Children Genetic Kidney Disease Database registry characterised the spectrum of the phenotype and genotype of NPHP-RC in the Chinese population. NPHP1 and NPHP3 were the most common pathogenic genes. Rapid progression to ESRD and liver involvement were noted in patients with NPHP3 mutations.

scholarly journals Alport's Syndrome in Pregnancy

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Suchita Mehta ◽  
Chadi Saifan ◽  
Marie Abdellah ◽  
Rita Choueiry ◽  
Rabih Nasr ◽  
...  
Keyword(s):  
Kidney Injury ◽  
Adverse Outcomes ◽  
Rapid Progression ◽  
Alport's Syndrome ◽  
Case Presentation ◽  
Alport’S Syndrome ◽  
History Of ◽  
Stage Renal Disease ◽  
End Stage ◽  
In Pregnancy

Background. Alport's syndrome is an X-linked hereditary disorder affecting the glomerular basement membrane associated with ocular and hearing defects. In women, the disease is much less severe compared to that in men. However, women with Alport's syndrome can have an accelerated form of their disease during pregnancy with worsening of kidney function and can also develop preeclampsia. There are only four described cases of Alport's syndrome in pregnancy.Case Presentation. 20-year-old woman with a history of Alport's syndrome, which during pregnancy worsened resulting in hypertension, proteinuria, and acute kidney injury. Fortunately, there was complete resolution of the proteinuria and kidney injury with delivery, and the patient did not require any renal replacement therapy.Conclusion. One of the four reported cases had an accelerated form of the disease during pregnancy with rapid progression of kidney injury and end-stage renal disease. There are no definite guidelines to monitor these patients during pregnancy. Further studies are required to understand the exact pathophysiology of kidney damage that occurs in pregnant women with Alport's syndrome. This may give us some insight into the prognostic predictors, so that we can monitor these women more thoroughly and prevent adverse outcomes.

Sign in / Sign up

Export Citation Format

Share Document