scholarly journals Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome

2021 ◽  
Vol 13 ◽  
Author(s):  
Yi-Hui Liu ◽  
Hai-Feng Zhang ◽  
Jie-Yuan Jin ◽  
Yan-Qiu Wei ◽  
Chen-Yu Wang ◽  
...  
Keyword(s):  
Case Report ◽  
White Matter ◽  
Kidney Disease ◽  
Messenger Rna ◽  
Vision Loss ◽  
Clinical Manifestations ◽  
White Matter Lesions ◽  
Homozygous Mutation ◽  
Inherited Disorders ◽  
First Case

Leukodystrophies are a heterogeneous group of inherited disorders with highly variable clinical manifestations and pathogenetic backgrounds. At present, variants in more than 20 genes have been described and may be responsible for different types of leukodystrophies. Members of the phospholipase D family of enzymes catalyze the hydrolysis of membrane phospholipids. Meanwhile, phospholipase D3 (PLD3) has also been found to exhibit single stranded DNA (ssDNA) acid 5′ exonuclease activity. Variants in phospholipase D3 (PLD3) may increase the risk of Alzheimer's disease and spinocerebellar ataxia, but this hypothesis has not been fully confirmed. In this study, we identified a novel homozygous mutation (NM_012268.3: c.186C>G/ p.Y62X) of PLD3 in a consanguineous family with white matter lesions, hearing and vision loss, and kidney disease by whole exome sequencing. Real-time PCR revealed that the novel mutation may lead to non-sense-mediated messenger RNA (mRNA) decay. This may be the first case report on the homozygous mutation of PLD3 in patients worldwide. Our studies indicated that homozygous mutation of PLD3 may result in a novel leukoencephalopathy syndrome with white matter lesions, hearing and vision loss, and kidney disease.

scholarly journals Adult Nesidioblastosis in Chronic Kidney Disease

2019 ◽  
Vol 2019 ◽  
pp. 1-6
Author(s):  
Eduardo Lozano-Melendez ◽  
Mercedes Aguilar-Soto ◽  
Luis Eugenio Graniel-Palafox ◽  
Laura Elena Ceceña-Martínez ◽  
Rafael Valdez-Ortiz ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Renal Function ◽  
Case Report ◽  
Kidney Disease ◽  
Kidney Failure ◽  
Hyperinsulinemic Hypoglycemia ◽  
Histopathological Diagnosis ◽  
Insulin Levels ◽  
First Case ◽  
End Stage

Context. Nesidioblastosis is a rare cause of hyperinsulinemic hypoglycemia in adults. The diagnosis is further complicated in patients with kidney failure, since impaired renal function can cause hypoglycemia by itself and diagnostic criteria for this clinical scenario have not been developed yet. Case Description. We present the case report of a 36-year-old patient with end stage chronic kidney disease who presented to the emergency department because of hypoglycemia. However, the patient’s hypoglycemia did not respond well to medical treatment; the diagnosis of hyperinsulinemic hypoglycemia was made due to the presence of inappropriately high levels of insulin, proinsulin, and C-peptide during an episode of hypoglycemia. Imaging studies were performed without any conclusive findings; so selective intra-arterial pancreatic stimulation with hepatic venous sampling (SACTS) was done. Based on the results of this study the patient was referred for subtotal pancreatectomy. Classic criteria for the diagnosis of insulinoma with SACTS required a 2-fold increase in insulin levels but newer criteria suggest thresholds that are useful in the differential diagnosis of insulinoma and nesidioblastosis. In our patient, the former criteria were positive; however, the new criteria were not compatible with insulinoma but with nesidioblastosis, which was the final histopathological diagnosis. Conclusion. This seems to be the first case report of a patient with end stage chronic kidney disease and nesidioblastosis, as well as the first case of hyperinsulinemic hypoglycemia in the context of kidney failure diagnosed by SACTS. We consider this method to be very useful in patients with renal impairment because peripancreatic insulin levels do not depend on the renal function.

scholarly journals Catecholaminergic Crisis After a Bleeding Complication of COVID-19 Infection: A Case Report

2021 ◽  
Vol 12 ◽  
Author(s):  
Angel Rebollo-Román ◽  
Maria R. Alhambra-Expósito ◽  
Yiraldine Herrera-Martínez ◽  
F. Leiva-Cepas ◽  
Carlos Alzas ◽  
...  
Keyword(s):  
Case Report ◽  
Severe Acute Respiratory Syndrome ◽  
Medical Treatment ◽  
Bleeding Complication ◽  
Adrenal Mass ◽  
Symptom Control ◽  
Clinical Manifestations ◽  
First Case ◽  
Thrombotic Complications

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) presents in some cases with hemostatic and thrombotic complications. Pheochromocytomas are unusual, though potentially lethal tumors. Herein we describe the first case of hemorrhage in a pheochromocytoma related to SARS-CoV-2 infection. A 62-year-old man consulted for syncope, fever, and palpitations. He was diagnosed with SARS-CoV-2 pneumonia and presented with a hemorrhage in a previously unknown adrenal mass, which resulted in a catecholaminergic crisis. Medical treatment and surgery were required for symptom control and stabilization. We hereby alert clinicians to watch for additional/unreported clinical manifestations in COVID-19 infection.

scholarly journals Mild sodium reduction in peritoneal dialysis solution improves hypertension in end stage kidney disease: a case-report study

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Luigi Vecchi ◽  
Mario Bonomini ◽  
Roberto Palumbo ◽  
Arduino Arduini ◽  
Silvio Borrelli
Keyword(s):  
Blood Pressure ◽  
Peritoneal Dialysis ◽  
Case Report ◽  
Kidney Disease ◽  
Substantial Reduction ◽  
End Stage Kidney Disease ◽  
Low Sodium ◽  
First Case ◽  
End Stage ◽  
Residual Diuresis

Abstract Introduction Blood Pressure (BP) control is largely unsatisfied in End Stage Kidney Disease (ESKD) principally due to sodium retention. Peritoneal Dialysis (PD) is the most common type of home dialysis, using a peritoneal membrane to remove sodium, though sodium removal remains challenging. Methods This is a case-study reporting two consecutive ESKD patients treated by a novel peritoneal PD solution with a mildly reduced sodium content (130 mmol/L) to treat hypertension. Results In the first case, a 78-year-old woman treated by Continuous Ambulatory PD (CAPD) with standard solution (three 4 h-dwells per day 1.36% glucose 132 mmol/L) showed resistant hypertension confirmed by ambulatory blood pressure monitoring (ABPM), reporting 24 h-BP: 152/81 mmHg, day-BP:151/83 mmHg and night-ABP: 153/75 mmHg, with inversion of the circadian systolic BP rhythm (1.01), despite use of three anti-hypertensives and a diuretic at adequate doses. No sign of hypervolemia was evident. We then switched from standard PD to low-sodium solution in all daily dwells. A six-months low-sodium CAPD enabled us to reduce diurnal (134/75 mmHg) and nocturnal BP (122/67 mmHg), restoring the circadian BP rhythm, with no change in ultrafiltration or residual diuresis. Diet and drug prescription were unmodified too. The second case was a 61-year-old woman in standard CAPD (three 5 h-dwells per day) suffering from hypertension confirmed by ABPM (mean 24 h-ABP: 139/84 mmHg; mean day-ABP:144/88 mmHg and mean night-ABP:124/70 mmHg). She was switched from 132-Na CAPD to 130-Na CAPD, not changing dialysis schedule. No fluid expansion was evident. During low-sodium CAPD, antihypertensive therapy (amlodipine 10 mg and Olmesartan 20 mg) has been reduced until complete suspension. After 6 months, we repeated ABPM showing a substantial reduction in mean 24 h-ABP (117/69 mmHg), mean diurnal ABP (119/75 mmHg) and mean nocturnal ABP (111/70 mmHg). Ultrafiltration and residual diuresis remained unmodified. No side effects were reported in either cases. Conclusions This case-report study suggests that mild low-sodium CAPD might reduce BP in hypertensive ESKD patients.

The Snowball Effect

2018 ◽  
pp. 55-60
Author(s):  
Aaron E. Miller ◽  
Tracy M. DeAngelis ◽  
Michelle Fabian ◽  
Ilana Katz Sand
Keyword(s):  
Hearing Loss ◽  
White Matter ◽  
Vision Loss ◽  
Demyelinating Disease ◽  
White Matter Lesions ◽  
Leptomeningeal Involvement ◽  
Immune Mediated ◽  
Retinal Artery ◽  
Deep Gray Matter ◽  
The Brain

Susac syndrome is a rare disease involving a triad of subacute encephalopathy, vision loss involving branch retinal artery occlusions (BRAOs), and sensorineural hearing loss. Clinical presentation is variable and generally does not involve the entire triad. The suspected pathophysiology is an immune-mediated endotheliopathy affecting the precapillary arterioles of the brain, retina, and inner ear. MRI of the brain reveals abnormal white matter lesions similar to demyelinating disease, but with distinct characteristic central callosal lesions, as well as deep gray matter and leptomeningeal involvement. There is no standardized therapy for Susac’s, but suspicion of an immune-mediated endotheliopathy has informed empirical treatment with corticosteroids and various immunosuppressant regimens, which appear to improve the prognosis.

White matter lesions in patient with treatment resistant obsessive compulsive disorder: a case report

2015 ◽  
Vol 16 (2) ◽  
pp. 150
Author(s):  
Osman Ozdemir ◽  
Pinar Ozdemir ◽  
Vedat Cilingir ◽  
Ekrem Yilmaz ◽  
Mehmet Bulut
Keyword(s):  
Case Report ◽  
White Matter ◽  
Obsessive Compulsive Disorder ◽  
White Matter Lesions ◽  
Treatment Resistant ◽  
Obsessive Compulsive ◽  
Compulsive Disorder

scholarly journals A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review

2020 ◽  
Vol 7 (8) ◽  
Author(s):  
Yu Qing Cai ◽  
HangHu Zhang ◽  
Xiang Zhi Wang ◽  
ChengYun Xu ◽  
Yun Qi Chao ◽  
...  
Keyword(s):  
Case Report ◽  
Mhc Class Ii ◽  
Novel Mutation ◽  
Gene Mutations ◽  
Class Ii ◽  
Homozygous Mutation ◽  
Primary Immunodeficiency Disorder ◽  
Mhc Ii ◽  
First Case ◽  
Rfxank Gene

Abstract Major histocompatibility complex (MHC) II deficiency is a rare primary immunodeficiency disorder that is characterized by the deficiency of MHC class II molecules. The disease is caused by transcription factor mutations including class II transactivator (CIITA), regulatory factor X-5 (RFX5), RFX-associated protein (RFXAP), and RFXAP-containing ankyrin repeat (RFXANK), respectively. Mutations in the RFXANK gene account for >70% of all known patients worldwide. Herein, we reported a 10-month-old boy with MHC II deficiency caused by a novel mutation in the RFXANK gene (c.337 + 1G>C). The boy was admitted to the hospital due to pneumonia and diarrhea at 4 months of age. Genetic analysis revealed a novel homozygous mutation in the RFXANK gene, which derived from the c.337 + 1G>C heterozygous mutations in the RFXANK gene of his parents. The boy died 3 months after diagnosis. More than 200 cases have been reported, and a review of the literature revealed different mutation rates of 4 transcription factors in different countries or regions. This is the first case report of MHC II deficiency from East Asia. We also describe all gene mutations that cause MHC II deficiency and the epidemiology of MHC II deficiency with gene mutations in this paper.

Gray matter volume and white matter lesions in chronic kidney disease: exploring the association with depressive symptoms

2016 ◽  
Vol 40 ◽  
pp. 18-24 ◽  
Author(s):  
Maaike Meurs ◽  
Annelieke M. Roest ◽  
Nynke A. Groenewold ◽  
Casper F.M. Franssen ◽  
Ralf Westerhuis ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Depressive Symptoms ◽  
White Matter ◽  
Kidney Disease ◽  
Gray Matter ◽  
Gray Matter Volume ◽  
White Matter Lesions ◽  
Matter Volume
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