scholarly journals An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Sheena Sharma ◽  
Jennifer M. Kalish ◽  
Ethan M. Goldberg ◽  
Francis Jeshira Reynoso ◽  
Madhura Pradhan
Keyword(s):  
Primary Cilia ◽  
Brain Mri ◽  
Rare Condition ◽  
Chronic Hemodialysis ◽  
Syndrome Type ◽  
Cystic Changes ◽  
Stage Renal Disease ◽  
End Stage ◽  
Case Diagnosis

Background. Oral-facial-digital syndrome type 1 (OFD1) is a rare condition with X-linked dominant inheritance caused by mutations in theCxorf5(OFD1) gene. This gene encodes the OFD1 protein located within centrosomes and basal bodies of primary cilia. Approximately 15–50% of patients with OFD1 progress to end-stage kidney disease following development of polycystic changes within the kidneys. This condition almost always causes intrauterine lethality in males.Description of Case Diagnosis and Treatment. A Caucasian male aged 9 years and 9 months presented with increased urinary frequency, increased thirst, and decreased appetite. Physical examination demonstrated short stature, hearing loss, photophobia, murmur, and hypogonadism. He had no other dysmorphic features. Laboratory results revealed anemia, renal insufficiency, and dilute urine with microscopic hematuria but no proteinuria. Ultrasound showed small kidneys with increased echogenicity but no evidence of cystic changes. A Ciliopathy Panel showed a novel and likely pathogenic deletion, approximately 7.9 kb, in theOFD1gene encompassing exons 16, 17, and 19 (c.1654+833_2599+423del). Brain MRI did not demonstrate typical OFD1 findings. He is currently on chronic hemodialysis awaiting transplant from a living donor.Conclusions. We present a male patient withOFD1mutation who lacks the classic OFD1 phenotype who presented with end-stage renal disease without evidence of polycystic changes within the kidneys.

Treatment with Cinacalcet in Hemodialysis Patients with Severe Secondary Hyperparathyroidism, Influences Bone Mineral Metabolism and Anemia Parameters

2020 ◽  
Vol 15 (3) ◽  
pp. 249-263
Author(s):  
Maria Aktsiali ◽  
Theodora Papachrysanthou ◽  
Ioannis Griveas ◽  
Christos Andriopoulos ◽  
Panagiotis Sitaras ◽  
...  
Keyword(s):  
Bone Mineral ◽  
Mineral Metabolism ◽  
Treatment Options ◽  
Dry Weight ◽  
Chronic Hemodialysis ◽  
Protective Agent ◽  
Positive Correlation ◽  
Stage Renal Disease ◽  
End Stage ◽  
Esrd Patients

Background: Due to the premium rate of Chronic Kidney Disease, we have increased our knowledge with respect to diagnosis and treatment of Bone Mineral Disease (BMD) in End- Stage Renal Disease (ESRD). Currently, various treatment options are available. The medication used for Secondary Hyper-Parathyroidism gives promising results in the regulation of Ca, P and Parathormone levels, improving the quality of life. The aim of the present study was to investigate the relation of cinacalcet administration to not only parathormone, Ca and P but also to anemia parameters such as hematocrit and hemoglobin. Materials and Methods: retrospective observational study was conducted in a Chronic Hemodialysis Unit. One-hundred ESRD patients were recruited for twenty-four months and were evaluated on a monthly rate. Biochemical parameters were related to medication prescribed and the prognostic value was estimated. Cinacalcet was administered to 43 out of 100 patients in a dose of 30-120 mg. Results: Significant differences were observed in PTH, Ca and P levels with respect to Cinacalcet administration. Ca levels appeared to be higher at 30mg as compared to 60mg cinacalcet. Furthermore, a decreasing age-dependent pattern was observed with respect to cinacalcet dosage. A positive correlation was observed between Dry Weight (DW) and cinacalcet dose. Finally, a positive correlation between Hematocrit and Hemoglobin and cinacalcet was manifested. Conclusions: Cinacalcet, is a potential cardiovascular and bone protective agent, which is approved for use in ESRD patients to assist SHPT. A novel information was obtained from this study, regarding the improvement of the control of anemia.

scholarly journals Low Incidence of End-Stage Renal Disease in Childhood-Onset Type 1 Diabetes Followed for Up to 42 Years

Diabetes Care ◽  
2017 ◽  
Vol 41 (3) ◽  
pp. 420-425 ◽  
Author(s):  
Vibeke Gagnum ◽  
Maryam Saeed ◽  
Lars C. Stene ◽  
Torbjørn Leivestad ◽  
Geir Joner ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Childhood Onset ◽  
Onset Type ◽  
Low Incidence ◽  
Stage Renal Disease ◽  
End Stage

L-Carnitine Consecutively Administered to Patients on Hemodialysis Improves Beta-Cell Response

2003 ◽  
Vol 26 (4) ◽  
pp. 304-307 ◽  
Author(s):  
E. Vazelov ◽  
A-M. Borissova ◽  
G. Kirilov ◽  
B. Assenova ◽  
M. Tchetirska ◽  
...  
Keyword(s):  
Beta Cell ◽  
Chronic Hemodialysis ◽  
Dialysis Session ◽  
Carnitine Level ◽  
Peripheral Tissues ◽  
Before And After ◽  
Oxidative Processes ◽  
Stage Renal Disease ◽  
End Stage ◽  
Beta Cell Response

Eight patients with end stage renal disease (ESRD) on chronic hemodialysis (CHD) treatment were supplemented with 1 g L-carnitine intravenously (i.v.) after each dialysis session for one month. A Tolbutamide test was done and blood sugar (BS), serum C-peptide (CP) were measured at 0, 20 and 60 minutes, as well as the plasma L-carnitine level before and after treatment. Delta CP and the area under CP curve were ascertained. After L-carnitine application delta CP was significantly increased (1.33 ± 0.63 vs. 2.24 ± 1.0 nmol/L; p <0.05) and also the area of the stimulated secretion under the CP curve (14.93 ± 11.11 vs. 36.88 ± 25.36 nmol/L × 60 min.; p <0.05). The fasting BS-level was significantly lower after the treatment - 3.85 ± 0.43 vs. 4.76 ± 1.02 mmol/L; p <0.05 and plasma L-carnitine level significantly increased (72.8 ± 43.2 vs. 35.2 ± 18.3 mcmol/L; p <0.05) Improving the oxidative processes in peripheral tissues, L-carnitine increases the peripheral effectiveness of insulin and relieves the overstretched beta-cell apparatus.

scholarly journals Outcomes of Chronic Hemodialysis Patients in the Intensive Care Unit

2013 ◽  
Vol 2013 ◽  
pp. 1-7
Author(s):  
Melanie Chan ◽  
Marlies Ostermann
Keyword(s):  
Intensive Care Unit ◽  
Renal Function ◽  
Intensive Care ◽  
Kidney Injury ◽  
Chronic Hemodialysis ◽  
Current Evidence ◽  
Icu Outcome ◽  
Stage Renal Disease ◽  
End Stage

Patients with end-stage renal disease (ESRD) experience higher rates of hospitalisation, cardiovascular events, and all-cause mortality and are more likely to require admission to the intensive care unit (ICU) than patients with normal renal function. Sepsis and cardiovascular diseases are the most common reasons for ICU admission. ICU mortality rates in patients requiring chronic hemodialysis are significantly higher than for patients without ESRD; however, dialysis patients have a better ICU outcome than those with acute kidney injury (AKI) requiring renal replacement therapy suggesting that factors other than loss of renal function contribute to their prognosis. Current evidence suggests, the longer-term outcomes after discharge from ICU may be favourable and that long-term dependence on dialysis should not prejudice against prompt referral or admission to ICU.

Angiotensin II Type 1 Receptor Gene Polymorphism in End-Stage Renal Disease

Nephron ◽  
2002 ◽  
Vol 92 (1) ◽  
pp. 51-55 ◽  
Author(s):  
Monika Buraczynska ◽  
Piotr Ksiazek ◽  
Wojciech Zaluska ◽  
Danuta Spasiewicz ◽  
Teresa Nowicka ◽  
...  
Keyword(s):  
Angiotensin Ii ◽  
Gene Polymorphism ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Receptor Gene ◽  
Receptor Gene Polymorphism ◽  
Stage Renal Disease ◽  
End Stage

scholarly journals Extended erythrocyte and reticulocyte parameters in the diagnosis of iron deficiency in hemodialysis patients

2020 ◽  
Vol 3 (4) ◽  
pp. 109-113
Author(s):  
Mohammed Nazim Bennaoum ◽  
◽  
Affaf Adda ◽  
Mohamed Chekkal ◽  
Fatima Seghier ◽  
...  
Keyword(s):  
Iron Deficiency ◽  
Iron Status ◽  
High Sensitivity ◽  
Hemodialysis Patients ◽  
Chronic Hemodialysis ◽  
Red Cells ◽  
Corpuscular Hemoglobin ◽  
Cellular Concentration ◽  
Stage Renal Disease ◽  
End Stage

Objective: Iron deficiency (ID) is a frequent complication in end stage renal insufficiency. These patients have to be diagnosed and treated to reduce the prevalence of anemia. Functional iron deficiency (FID) is a situation that can disrupt biochemical iron tests and mask an eventual association with ID. In this study, we tried to prove the ability of extended parameters of red cells and reticulocytes to diagnose ID without being influenced by FID. Design and methods: 164 chronic hemodialysis patients (CHP) in end stage renal disease were enrolled. Research parameters of red cells and reticulocytes determined on ADVIA 2120i were studied in the diagnosis of ID associated or not with chronic inflammation. Results: Parameters such as corpuscular hemoglobin of mature red cells (CHm), corpuscular hemoglobin of reticulocytes (CHr), cellular concentration of hemoglobin in mature red cells (CHCMm), cellular concentration of hemoglobin in reticulocytes (CHCMr) and percentage of microcytic and hypochromic red cells (HYMI) showed a high sensitivity to diagnose ID. However, the distinction of combined iron deficiency (CID) from other entities was not possible with all parameters. In chronic inflammatory states, the decrease of CHm, CHCMm and CHCMr with the rise of percentage hypochromic mature red cells (HYPOm) and reticulocytes (HYPOr) is in favor of CID. So, determination of inflammatory state is needed to complete research parameters of blood count in CHP. Conclusion: Extended erythrocyte and reticulocyte parameters can be useful to check iron status in CHP.

Sign in / Sign up

Export Citation Format

Share Document