Confirming Genetic Abnormalities of Hypokalemic Periodic Paralysis Using Next-Generation Sequencing: A Case Report and Literature Review

Hypokalemic periodic paralysis (hypoPP) is a disorder characterized by episodic, short-lived, and hypo-reflexive skeletal muscle weakness. HypoPP is a rare disease caused by genetic mutations related to expression of sodium or calcium ion channels. Most mutations are associated with autosomal dominant inheritance, but some are found in patients with no relevant family history. A 28-year-old man who visited the emergency room for paralytic attack was assessed in this study.He exhibited motor weakness in four limbs. There was no previous medical history or family history. The initial electrocardiogram showed a flat T wave and QT prolongation. His blood test was delayed, and sudden hypotension and bradycardia were observed. The blood test showed severe hypokalemia. After correcting hypokalemia, his muscle paralysis recovered without any neurological deficits. The patient’s thyroid function and long exercise test results were normal. However, because of the history of high carbohydrate diet and exercise, hypoPP was suspected. Hence, next-generation sequencing (NGS) was performed, and a mutation of Arg669His was noted in the SCN4A gene. Although hypoPP is a rare disease, it can be suspected in patients with hypokalemic paralysis, and iden tification of this condition is important for preventing further attacks and improving patient outcomes. Diagnosing hypoPP through targeted NGS is a cost-effective and useful method.

Acute Kidney Injury and Kidney Damage in COVID-19 Patients

Background@#Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. This disease, which is quickly spreading worldwide, has high potential for infection and causes rapid progression of lung lesions, resulting in a high mortality rate. This study aimed to investigate the effects of SARS-CoV-2 infection on renal function in patients with COVID-19. @*Methods@#From February 21 to April 24, 2020, 66 patients diagnosed with COVID-19 at Chungnam National University Hospital were analyzed; all patients underwent routine urinalysis and were tested for serum creatinine, urine protein to creatinine ratio (PCR), and urine albumin to creatinine ratio (ACR). @*Results@#Acute kidney injury (AKI) occurred in 3 (4.5%) of the 66 patients, and 1 patient with AKI stage 3 underwent hemodialysis. Upon follow-up, all 3 patients recovered normal renal function. Compared with patients with mild COVID-19, AKI (n = 3) occurred in patients with severe COVID-19, of whom both urine PCR and ACR were markedly increased. @*Conclusion@#The incidence of AKI was not high in COVID-19 patients. The lower mortality rate in SARS-CoV-2 infection compared with previous Middle East respiratory syndrome and SARS-CoV infections is thought to be associated with a low incidence of dysfunction in organs other than the lungs.

Transient Blindness in a Patient with Severe Metformin-Associated Lactic Acidosis (MALA)

A 68-year-old man presented at the emergency room with sudden blindness. The day before, he had eaten sashimi and eel and drank alcohol for dinner. He experienced nausea, vomiting, and dizziness afterward. His medical history included hypertension and diabetes, and the latter was treated with metformin. Initial laboratory tests revealed severe metabolic acidosis (lactic acidosis). Massive hydration and intravenous sodium bicarbonate replacement therapies were initiated, but severe metabolic acidosis (lactic acidosis) did not resolve, in turn, leading to hemodialysis, which decreased metabolic acidosis. The patient's blindness improved, and his vision gradually recovered. As it is not easy to distinguish between blindness related to metformin-associated lactic acidosis (MALA) and blindness related to other causes, rapid correction of metabolic acidosis through hemodialysis might be helpful in differentiating this from of blindness from blindness related to other causes.

Outcomes of end-stage renal disease patients on the waiting list for deceased donor kidney transplantation: A single-center study

BACKGROUND: Kidney transplantation is an effective renal replacement therapy for patients with end-stage renal disease (ESRD). In this study, we assessed the impact of the baseline characteristics and comorbidities of ESRD patients on the probability of deceased donor kidney transplantation (DDKT) and evaluated the morbidity and mortality during the time spent waiting. METHODS: The study population consisted of 544 ESRD patients on the waiting list for DDKT at Chungnam National University Hospital in South Korea between February 2000 and October 2015. The patients were observed from the date of transplantation list registration to the date of transplantation. Baseline characteristics and comorbidities were investigated together with new-onset comorbidities that occurred during the waiting time. RESULTS: Diabetes mellitus (39.0%), hypertension (25.2%), and glomerulonephritis (21.3%) were the three most common causes of ESRD in this study, and coronary artery disease (9.4%) was the most common comorbidity. The 115 patients (19.3%) who underwent DDKT had a mean waiting time of 1,711 days (768–2,654 days or 4.68 years [2.10–7.27]). Blood groups other than type O, peritoneal dialysis, and nondiabetic ESRD were significantly associated with a higher likelihood of DDKT. Infection was the leading cause of death and the most common comorbidity that arose during the waiting time. Patients who experienced cardiovascular events during the waiting time showed a lower transplant rate compared with those who did not. CONCLUSION: The prevalence of comorbidities was high in renal transplantation candidates. During the often-long waiting time, new comorbidities may occur, with long-term sequelae limiting access to kidney transplantation or resulting in death.

Endogenous Bacterial Endopthalmitis from Long-term Use of a Tunneled Cuffed Hemodialysis Catheter Infection / 전남의대학술지

No abstract available.

Physical, Physiological, and Psychological Factors Determing Sleep Quality in Patients on Maintenance Hemodialysis / 임상간호연구

PURPOSE: The study aimed to examine quality of sleep in hemodialysis patients and explore physical, physiological, and psychological factors determining sleep quality. METHODS: The survey was conducted among 165 patients on maintenance hemodialysis at a university hospital. Data were collected from July to October in 2015. The sleep quality and its related factors were assessed by standardized questionnaires, anthropometric measures, and lab tests after obtaining a written consent from the participant. RESULTS: The mean age of the participants was 62.58 years old, and 67.9% of the participants experienced sleep disorders such as ‘not falling asleep within 30 minutes’ or ‘frequently waking up at night’. Pain (t=-3.29, p=.007) and depression (t=-6.028, p < .001) were significantly different between the group with sleep disorder and the other without. The demographic factors (age, shared room, sleep during the day), physical factors (pain and symptom), and psychological factors (depression and trait and status anxiety) together explained 20.0% of variance in sleep quality. CONCLUSION: Sleep disorder was frequently experienced among the patients on maintenance hemodialysis. The effective nursing strategies should focus on sleep environment, pain and depression management. Further study is warranted to explore the effect of physiological factors related to the disease on sleep disorder in this population.

A Case of Ethylene Glycol intoxication with Acute Renal Injury: Successful Recovery by Fomepizole and Renal Replacement Therapy

Ethylene glycol is a widely used and readily available substance. Ethylene glycol ingestion does not cause direct toxicity; however, its metabolites are highly toxic and can be fatal even in trace amounts. Poisoning is best diagnosed through inquiry, but as an impaired state of consciousness is observed in most cases, poisoning must be suspected when a significantly elevated osmolar gap or high anion gap metabolic acidosis is found in blood tests. Hemodialysis and alcohol dehydrogenase inhibitors such as ethanol and fomepizole are a part of the basic treatment, and timely diagnosis and treatment are crucial because any delays can lead to death. However, there are few reported cases in Korea, and no report on the use of fomepizole. Herein, we report a case of acute renal failure caused by ethylene glycol poisoning that was treated with fomepizole and hemodialysis and present a literature review.

Comparison of treatment delay associated with tunneled hemodialysis catheter placement between interventionists

BACKGROUND/AIMS: Fragmented care in nephrology can cause treatment delays. Nephrologists are qualified to perform vascular access-related procedures because they understand the pathophysiology of renal disease and perform physical examination for vascular access. We compared treatment delays associated with tunneled hemodialysis catheter (TDC) placement between interventional radiologists and nephrologists. METHODS: We collected data by radiologists from January 1, 2011 through December 31, 2011 and by nephrologists from since July 1, 2012 through June 30, 2013. We compared the duration from the hemodialysis decision to TDC placement (D-P duration) and hemodialysis initiation (D-H duration), catheter success and the complication rate, and the frequency and the usage time of non-tunneled hemodialysis catheters (NDCs) before TDC placement. RESULTS: The study analyzed 483 placed TDCs: 280 TDCs placed by radiologists and 203 by nephrologists. The D-P durations were 319 minutes (interquartile range [IQR], 180 to 1,057) in the radiologist group and 140 minutes (IQR, 0 to 792) in the nephrologist group. Additionally, the D-H durations were 415 minutes (IQR,260 to 1,091) and 275 minutes (IQR, 123 to 598), respectively. These differences were statistically significant (p = 0.00). The TDC success rate (95.3% vs. 94.5%, respectively; p = 0.32) and complication rate (16.2% vs. 11%, respectively; p = 0.11) did not differ between the groups. The frequency (24.5 vs. 26%, respectively; p = 0.72) and the usage time of NDC (8,451 vs. 8,416 minutes, respectively; p = 0.91) before TDC placement were not statistically significant. CONCLUSIONS: Trained interventional nephrologists could perform TDC placement safely, minimizing treatment delays.

Concomitant inhibition of renin angiotensin system and Toll-like receptor 2 attenuates renal injury in unilateral ureteral obstructed mice

BACKGROUND/AIMS: There has been controversy about the role of Toll-like receptor 2 (TLR2) in renal injury following ureteric obstruction. Although inhibition of the renin angiotensin system (RAS) reduces TLR2 expression in mice, the exact relationship between TLR2 and RAS is not known. The aim of this study was to determine whether the RAS modulates TLR2. METHODS: We used 8-week-old male wild type (WT) and TLR2-knockout (KO) mice on a C57Bl/6 background. Unilateral ureteral obstruction (UUO) was induced by complete ligation of the left ureter. Angiotensin (Ang) II (1,000 ng/kg/min) and the direct renin inhibitor aliskiren (25 mg/kg/day) were administrated to mice using an osmotic minipump. Molecular and histologic evaluations were performed. RESULTS: Ang II infusion increased mRNA expression of TLR2 in WT mouse kidneys (p < 0.05). The expression of renin mRNA in TLR2-KO UUO kidneys was significantly higher than that in WT UUO kidneys (p < 0.05). There were no differences in tissue injury score or mRNA expression of monocyte chemotactic protein 1 (MCP-1), osteopontin (OPN), or transforming growth factor beta (TGF-beta) between TLR2-KO UUO and WT UUO kidneys. However, aliskiren decreased the tissue injury score and mRNA expression of TLR2, MCP-1, OPN, and TGF-beta in WT UUO kidneys (p < 0.05). Aliskiren-treated TLR2-KO UUO kidneys showed less kidney injury than aliskiren-treated WT UUO kidneys. CONCLUSIONS: TLR2 deletion induced activation of the RAS in UUO kidneys. Moreover, inhibition of both RAS and TLR2 had an additive ameliorative effect on UUO injury of the kidney.

The Impact of Hemodialysis and Arteriovenous Access Flow on Extracranial Hemodynamic Changes in End-Stage Renal Disease Patients

In this study, we characterized cerebral blood flow changes by assessment of blood flow parameters in neck arteries using carotid duplex ultrasonography and predictive factors for these hemodynamic changes. Hemodynamic variables were measured before and during hemodialysis in 81 patients with an arteriovenous access in their arm. Hemodialysis produced significant lowering in peak systolic velocity and flow volume of neck arteries and calculated total cerebral blood flow (1,221.9 ± 344.9 [before hemodialysis] vs. 1,085.8 ± 319.2 [during hemodialysis], P < 0.001). Effects were greater in vessels on the same side as the arteriovenous access and these changes were influenced by arteriovenous access flow during hemodialysis, both in the CCA (r = -0.277, P = 0.015) and the VA (r = -0.239, P = 0.034). The change of total cerebral blood flow during hemodialysis was independently related with age, presence of diabetes, and systemic blood pressure.

The Impact of Hemodialysis and Arteriovenous Access Flow on Extracranial Hemodynamic Changes in End-Stage Renal Disease Patients

In this study, we characterized cerebral blood flow changes by assessment of blood flow parameters in neck arteries using carotid duplex ultrasonography and predictive factors for these hemodynamic changes. Hemodynamic variables were measured before and during hemodialysis in 81 patients with an arteriovenous access in their arm. Hemodialysis produced significant lowering in peak systolic velocity and flow volume of neck arteries and calculated total cerebral blood flow (1,221.9 ± 344.9 [before hemodialysis] vs. 1,085.8 ± 319.2 [during hemodialysis], P < 0.001). Effects were greater in vessels on the same side as the arteriovenous access and these changes were influenced by arteriovenous access flow during hemodialysis, both in the CCA (r = -0.277, P = 0.015) and the VA (r = -0.239, P = 0.034). The change of total cerebral blood flow during hemodialysis was independently related with age, presence of diabetes, and systemic blood pressure.

Rhabdomyolysis in a patient taking nebivolol

β Blockers such as propranolol and labetalol are known to induce toxic myopathy because of their partial β₂ adrenoceptor agonistic effect. Nebivolol has the highest β1 receptor affinity among β blockers, and it has never been reported to induce rhabdomyolysis until now. We report a patient who developed rhabdomyolysis after changing medication to nebivolol. A 75-year-old woman was admitted to our hospital because of generalized weakness originating 2 weeks before visiting. Approximately 1 month before her admission, her medication was changed from carvedilol 12.5 mg to nebivolol 5 mg. Over this time span, she had no other lifestyle changes causing rhabdomyolysis. Her blood chemistry and whole body bone scan indicated rhabdomyolysis. We considered newly prescribed nebivolol as a causal agent. She was prescribed carvedilol 12.5 mg, which she was previously taking, instead of nebivolol. She was treated by hydration and urine alkalization. She had fully recovered and was discharged.

A Case of Membranous Glomerulonephritis with Superimposed Anti-Neutrophil Cytoplasmic Antibody-Associated Rapidly Progressive Crescentic Glomerulonephritis / 전남의대학술지

Idiopathic membranous glomerulonephritis (IMGN) is commonly diagnosed in adults with proteinuria. Rapid deterioration of renal function is a rare complication of IMGN, except when accompanied by renal vein thrombosis, malignant hypertension, or other underlying disease, including lupus nephritis. Here, we present a case of rapid deterioration of renal function in a patient with MGN superimposed with anti-neutrophil cytoplasmic antibody (ANCA)-associated rapidly progressive crescentic glomerulonephritis (RPGN). Overall, about 20 cases of MGN with ANCA-associated RPGN have been reported. This case of biopsy-proven MGN with ANCA-associated RPGN is the first to be reported in Korea.

Overhydration measured by bioimpedance analysis and the survival of patients on maintenance hemodialysis: a single-center study

BACKGROUND: Bioimpedance analysis (BIA) helps measuring the constituents of the body noninvasively. Prior studies suggest that BIA-guided fluid assessment helps to predict survival in dialysis patients. We aimed to evaluate the clinical usefulness of BIA for predicting the survival rate of hemodialysis patients in Korea. METHODS: We conducted a single-center retrospective study. All patients were diagnosed with end-stage renal disorder and started maintenance hemodialysis between June 2009 and April 2014. BIA was performed within the 1st week from the start of hemodialysis. The patients were classified into 2 groups based on volume status measured by the body composition monitor (BCM; Fresenius): an overhydrated group [OG; overhydration/extracellular water (OH/ECW) >15%] and a nonoverhydrated group (NOG; OH/ECW < or =15%). RESULTS: A total of 344 patients met the inclusion criteria. Of these, 252 patients (73.3%) were categorized into the OG and 92 patients (26.7%) into the NOG. Age- and sex-matching patients were selected with a rate of 2:1. Finally, 160 overhydrated patients and 80 nonoverhydrated patients were analyzed. Initial levels of hemoglobin and serum albumin were significantly lower in the OG. During follow-up, 43 patients from the OG and 7 patients from the NOG died (median follow-up duration, 24.0 months). The multivariate-adjusted all-cause mortality was significantly increased in the OG (odds ratio, 2.569; P = 0.033) and older patients (odds ratio, 1.072/y; P < 0.001). No significant difference of all-cause or disease-specific admission rate was observed between the 2 groups. CONCLUSION: The ratio of OH/ECW volume measured with body composition monitor is related to the overall survival of end-stage renal disorder patients who started maintenance hemodialysis.

A Case of Membranous Glomerulonephritis with Superimposed Anti-Neutrophil Cytoplasmic Antibody-Associated Rapidly Progressive Crescentic Glomerulonephritis / 전남의대학술지

Idiopathic membranous glomerulonephritis (IMGN) is commonly diagnosed in adults with proteinuria. Rapid deterioration of renal function is a rare complication of IMGN, except when accompanied by renal vein thrombosis, malignant hypertension, or other underlying disease, including lupus nephritis. Here, we present a case of rapid deterioration of renal function in a patient with MGN superimposed with anti-neutrophil cytoplasmic antibody (ANCA)-associated rapidly progressive crescentic glomerulonephritis (RPGN). Overall, about 20 cases of MGN with ANCA-associated RPGN have been reported. This case of biopsy-proven MGN with ANCA-associated RPGN is the first to be reported in Korea.

Clinical and Histopathological Analysis of the Kidney Biopsies of 2,450 Patients seen over 30 Years at Chungnam National University Hospital / 대한내과학회지

BACKGROUND/AIMS: This study evaluated the clinical characteristics of patients who underwent kidney biopsies, and the relative changes in pathological diagnosis, according to time periods over the last 30 years (1981-2010). METHODS: This study included 3,051 patients who were older than 15 years and underwent kidney biopsies at Chungnam University Hospital between January 1981 and December 2010. For analysis, the patients were grouped into three time periods: I (1981-1990), II (1991-2000), and III (2001-2010). We reviewed the available medical records of 2,450 patients and analyzed the changes in their clinical characteristics over time. RESULTS: The mean patient age was 35.9 (range 15-91) years and the male-to-female ratio was 1.3:1. The most common indication for a kidney biopsy was an asymptomatic urinary abnormality (64.2%) and the proportion with this indication increased significantly over time (p < 0.001). Primary glomerular diseases comprised 65.4% of all pathological diagnoses, followed by secondary (13.6%) and hereditary (12.5%) glomerular diseases. The proportion of primary glomerular diseases decreased significantly with time (p < 0.001), while the proportions of secondary and hereditary glomerular diseases increased correspondingly (p < 0.001). IgA nephropathy was the most common pathological diagnosis (36.7%) overall. The proportion of IgA nephropathy increased significantly with time (p < 0.001), while minimal change disease and acute post-streptococcal glomerulonephritis decreased significantly (p < 0.001 and p = 0.013, respectively). CONCLUSIONS: The results demonstrated that the clinical indications and pathological diagnoses in patients who underwent kidney biopsies changed significantly over the last 30 years.

Severe Hypernatremia by Excessive Bamboo Salt Ingestion in Healthy Young Woman

Severe hypernatremia is an important electrolyte disorder that has serious effects. The patient had no medical history. A. 20-year-old ingested bamboo salt for digestion and weight reduction according to the folk remedies posted on an internet website. She presented with vomiting and diarrhea over ten times per day. Her initial serum sodium concentration was 174mEq/L. Her symptoms improved rapidly with hypotonic saline infusion. She recovered completely without any sequelae in three days. Severe hypernatremia in a normal young adult with clear consciousness and normal renal function has not been reported in Korea yet. So we report a case of severe hypernatremia by excessive bamboo salt ingestion in healthy young woman.

Nondiabetic kidney diseases in type 2 diabetic patients

BACKGROUND: The aim of this study was to evaluate the clinical characteristics of nondiabetic nephropathy in type 2 diabetes mellitus patients and to find a clinical significance of renal biopsy and immunosuppressive treatment in such a patient. METHODS: Renal biopsy results, clinical parameters, and renal outcomes were analyzed in 75 diabetic patients who underwent kidney biopsy at Chungnam National University Hospital from January 1994 to December 2010. RESULTS: The three most common reasons for renal biopsy were nephrotic range proteinuria (44%), proteinuria without diabetic retinopathy (20%), and unexplained decline inrena lfunction (20.0%). Ten patients (13.3%) had only diabetic nephropathy (Group I); 11 patients (14.7%) had diabetic nephropathy with superimposed nondiabetic nephropathy (Group II); and 54 patients (72%) had only nondiabetic nephropathy (Group III). Membranous nephropathy (23.1%), IgA nephropathy (21.5%), and acute tubulointerstitial nephritis (15.4%) were the three most common nondiabetic nephropathies. Group III had shorter duration of diabetes and lesser diabetic retinopathy than Groups I and II (P = 0.008).Group II had the lowest baseline estimated glomerular filtration rate (P = 0.002), with the greatest proportion of renal deterioration during follow-up (median 38.0 months, P < 0.0001). The patients who were treated with intensive method showed better renal outcomes (odds ratio 4.931; P = 0.01). Absence of diabetic retinopathy was associated with favorable renal outcome in intensive treatment group (odds ratio 0.114; P = 0.032). CONCLUSION: Renal biopsy should be recommended for type 2 diabetic patients with a typical nephropathy because a considerable number of these patients may have nondiabetic nephropathies. And intensive treatment including corticosteroid or immunosuppressants could be recommended for type 2 diabetic patients with nondiabetic nephropathy, especially if the patients do not have diabetic retinopathy.

Hyperammonemia in a Patient with Late-Onset Ornithine Carbamoyltransferase Deficiency

Ornithine carbamoyltransferase (OTC) deficiency is a urea cycle disorder that causes the accumulation of ammonia, which can lead to encephalopathy. Adults presenting with hyperammonemia who are subsequently diagnosed with urea cycle disorders are rare. Herein, we report a case of a late-onset OTC deficient patient who was successfully treated with arginine, benzoate and hemodialysis. A 59-yr-old man was admitted to our hospital with progressive lethargy and confusion. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. A plasma amino acid and urine organic acid analysis revealed OTC deficiency. Despite the administration of a lactulose enema, the patient's serum ammonia level increased and he remained confused, leading us to initiate acute hemodialysis. After treatment with arginine, sodium benzoate and hemodialysis, the patient's serum ammonia level stabilized and his mental status returned to normal.

A Case of Urine Leakage: An Unusual Complication after Renal Biopsy / 전남의대학술지

Renal biopsy is a crucial method in the diagnosis and treatment of acute renal failure of unknown origin, nephrotic syndrome, suspicious interstitial nephritis, and glomerulonephritis as a possible cause of hematuria or proteinuria. Complications occur in 2% to 8% of patients after percutaneous renal biopsy. Complications include gross hematuria, perirenal hematoma, arteriovenous fistula, aneurysm, injury of other organs, and urine leakage. Urine leakage as a complication after kidney biopsy is rare. We experienced a case of urine leakage into the intra-abdominal cavity after renal biopsy.