Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency

Conclusions Although uncommon, the clinical picture of CblC defects may be ruled by nephrotic syndrome mimicking glomerulonephritis, minimal change disease, or primary focal and segmental glomerulosclerosis. Key to a correct diagnosis is elevated serum levels of homocysteine, and a definite diagnosis can be confirmed by genetic testing.
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research

Related Links:

Authors: Møller S, Kimer N, Barløse M, Bendtsen F Abstract Detailed knowledge and understanding of the pathophysiological mechanisms and changes in hepatic and splanchnic function leading to the development of haemodynamic changes and portal hypertension in patients with cirrhosis are essential since it guides the search for targets to ameliorate liver-related abnormalities. Recent research has focused on the gut-liver axis, changes in intestinal permeability, translocation of bacterial products, and inflammation as important drivers of haemodynamic alterations and thereby targets for treatment. Addit...
Source: Scandinavian Journal of Gastroenterology - Category: Gastroenterology Tags: Scand J Gastroenterol Source Type: research
Authors: Alcázar-Leyva S, Zapata E, Bernal-Alcántara D, Gorocica P, Alvarado-Vásquez N Abstract Although thiamine pyrophosphate (TPP) is considered a protective agent for endothelial cells, it is still unknown if this is associated with nitric oxide (NO) synthesis. Our aim was to evaluate the synthesis of NO in endothelial cells incubated with TPP and high glucose concentrations. Endothelial cells from the umbilical cord vein from newborns (n = 20), were incubated with 5, 15 or 30 mmol/L glucose, in absence or presence of 0.625 mg/ml of TPP. Our results showed a significant...
Source: International Journal for Vitamin and Nutrition Research - Category: Nutrition Tags: Int J Vitam Nutr Res Source Type: research
Authors: Campean IA, Lang IM Abstract Introduction: Despite an increasingly older pulmonary hypertension (PH) population, data on PH treatments in these patients are limited because there exist no clinical studies dedicated to geriatric groups. Furthermore, elderly patients with comorbidities have been systematically excluded from clinical trials, limiting the evidence base for drugs approved for pulmonary arterial hypertension (PAH).Areas covered: This review is focused on the diagnosis and treatment of pulmonary hypertension (PH) in the elderly, which is a hot topic today. Areas covered by the authors include cur...
Source: Expert Opinion on Pharmacotherapy - Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research
Authors: Machen L, Razeghinejad R, Myers JS Abstract Introduction: Fixed-combination glaucoma medications have altered the paradigm of ocular hypertension and glaucoma treatment and are in widespread use today. A comprehensive review of fixed-combination medications will help educate and inform providers for optimal patient care.Areas covered: In this review, the authors describe the composition, mechanism of action, efficacy, side effects, and safety profile of fixed-combination agents for the treatment of ocular hypertension and glaucoma as well as comparisons between the most frequently prescribed medications.Ex...
Source: Expert Opinion on Pharmacotherapy - Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research
DISCUSSION: Our case highlights how DIL should be on the differential when seemingly disparate symptoms develop in a patient receiving DIL-associated medications. Lupus is one of the "great imitators," in which symptoms can be ascribed to many different underlying causes. Although this patient's presentation may have been confounded by concomitant histoplasmosis, his improvement with cessation of hydralazine treatment argues in favor of DIL. His continued atypical serologic test results could be residual from his DIL and should normalize with time. However, it raises the question whether this bout of DIL has unma...
Source: The Permanente journal - Category: General Medicine Tags: Perm J Source Type: research
Authors: Temmerman F, Laleman W, Maleux G, Nevens F Abstract Patients with hepatic encephalopathy (HE) do not systematically receive priority on the waiting list for liver transplantation. In some patients with cirrhosis, excessive amounts of gut derived ammonia can bypass the liver parenchyma due to large spontaneous portosystemic shunts (SPSS) induced by portal hypertension. A similar but iatrogenic condition can occur after transjugular portosystemic shunt (TIPS) insertion. In these situations HE may develop and can become refractory to standard management. In patients with preserved liver function, embolization...
Source: Acta Gastro-Enterologica Belgica - Category: Gastroenterology Tags: Acta Gastroenterol Belg Source Type: research
Conclusions: Collagenous gastritis in children is mainly characterized by symptoms of anaemia, abdominal pain or diarrhea. Gastroscopy with fundic biopsies helps to confirm diagnosis and treatment with PPI's (associated with oral iron supplement in case of anaemia) seems to be the most efficient choice to achieve clinical and sometimes histological remission. Long-term outcome of these young patients is unknown. A better understanding of the pathogenesis could lead to new medications focusing on this histological remission. PMID: 32233270 [PubMed - in process]
Source: Acta Gastro-Enterologica Belgica - Category: Gastroenterology Tags: Acta Gastroenterol Belg Source Type: research
CONCLUSION: This case highlights the utility of LT as a viable treatment option for acute sickle cell intrahepatic cholestasis. PMID: 32231764 [PubMed]
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
Publication date: Available online 2 April 2020Source: Journal of Clinical NeuroscienceAuthor(s): Yonggang Ma, Meng Zhao, Xiaofeng Deng, Dong Zhang, Shuo Wang, Zheng Zeng, Qian Zhang, Jizong Zhao
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
Authors: Miyake Z, Nakamagoe K, Yoshida K, Kondo T, Tamaoka A Abstract The patient was a 64-year-old man presented with difficulty in walking, articulation, and swallowing, as well as cognitive impairment. He had refractory microcytic anemia and diabetes mellitus. His serum levels of iron, copper, and ceruloplasmin were low. Magnetic resonance imaging suggested iron deposition in the basal ganglia, thalami, cerebellar dentate nuclei, and cerebral and cerebellar cortices. He was diagnosed with aceruloplasminemia after a ceruloplasmin gene analysis. Iron chelation therapy with deferasirox improved his anemia and cere...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
More News: Anemia | Genetics | Glomerulonephritis | Hypertension | Nephritis | Nephrotic Syndrome | Pediatrics | Proteinuria | Renal Failure | Urology & Nephrology | Vitamin B12 | Vitamin B12 Deficiency | Vitamins