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.

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.

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.

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.

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 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.

Hydration Status and Clinical Features in Patients with End-Stage Renal Disease on Regular Hemodialysis / 대한신장학회지

PURPOSE: Maintenance of the normal hydration state is one of the major purposes of hemodialysis therapy in patients with end-stage renal disease. Overhydration is an important and independent predictor of mortality in patients with end-stage renal disease on regular hemodialysis. BCM (body composition monitor, FMC, Germany) reliably enables quantitative assessment of hydration status and body composition. The aims of this study were to investigate the relationship between hydration status and clinical features and the risk factors of overhydration. METHODS: We measured hydration status and body composition of total 72 patients with end-stage renal disease on regular hemodialysis by BCM from June, 2009 to September, 2009. We also reviewed the clinical characteristics and laboratory findings and comorbidities retrospectively. RESULTS: The hydration status measured by BCM was correlated well with interdialytic weight gain after 48 hours and 72 hours from last hemodialysis treatment (r=0.42 p or =20%) and control patients (relative hydration status <20%). In overhydrated patients, serum iron level was lower than control patients 48 hrs after last hemodialysis (p<0.05). CONCLUSION: This cross-sectional study showed that hydration status measured by BCM was correlated well with interdialytic weight gain although there was no significant clinical difference between overhydrated and control patients with end-stage renal disease on regular hemodialysis.

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.

Ankle-Brachial Index and Risk Factors for Peripheral Arterial Disease in Dialysis Patients / 대한신장학회지

PURPOSE: Peripheral arterial disease (PAD) is a predictable marker of coronary heart disease and cerebrovascular disease and its prevalence among chronic kidney disease (CKD) patients especially in end-stage renal disease (ESRD) patients undergoing dialysis is apparently increasing. Ankle-brachial index (ABI) is regarded as an easy, reliable, and noninvasive measure of the presence and severity of lower-extremity PAD (ABI or =0.9) and the prevalence of PAD was analyzed. We measured ABI with VP2000 PWV/ankle-brachial index. We also reviewed the clinical characteristics and evaluated the risk factors of PAD, retrospectively. RESULTS: One hundred seventeen patients on hemodialysis, and twenty one patients on peritoneal dialysis were included in this study. The mean age of total patients was 60.1 (24-84) years old. Thirty five patients out of one hundred thirty eight patients had an ABI index of less than 0.9 (PAD indicative). PAD was independently associated with age (p=0.013), duration of dialysis (p=0.013), history of coronary artery disease and cerebrovascular disease (p=0.001, p=0.001 respectively), diabetes (p=0.034), and increased LDL cholesterol (p=0.004) in univariate analysis. In multivariate logistic regression analysis, duration of dialysis, increased level of LDL-cholesterol and history of coronary artery disease were significantly related with PAD (p=0.008, p=0.019, p=0.018 respectively). CONCLUSION: Duration of dialysis, increased level of LDL-cholesterol and coronary artery disease were independent risk factors for PAD in patients with ESRD on dialysis.

A Case of Spontaneous Subdural Hematoma in a Patient with Autosomal Dominant Polycystic Kidney Disease / 대한신장학회지

Intracranial manifestations associated with autosomal dominant polycystic kidney disease (ADPKD) include arachnoid cysts, dolichoectasias, and subdural hematoma (SDH), although there are only a few reports of SDH in patients with ADPKD. We report a case of spontaneous SDH in a patient with ADPKD. A 33-year-old woman complained of severe nausea and vomiting for 10 days. She had suffered from a headache for several months. She was diagnosed with ADPKD and hypertension 6 years earlier, and the hypertension was well controlled. Her mental state was drowsy in the emergency room. Her blood pressure was 180/105 mmHg. There was no evidence of head trauma. Results of a peripheral blood CBC and blood chemistry analysis were within normal limits, as were the results of a blood coagulation test and urinalysis. She was pregnant and in the eighth week of gestation. Brain magnetic resonance imaging revealed SDH in the left lateral convexity and focally in the right lateral convexity, and brain herniation. Surgical drainage was performed through a burr hole, under general anesthesia. Intra-operatively, 62 mL of liquefied subdural hematoma were removed. She recovered completely without sequelae.

Prognostic Factors of Acute Renal Failure Patients Treated with Continuous Renal Replacement Therapy / 대한신장학회지

PURPOSE: Continuous renal replacement therapy (CRRT) has been used widely for treating critically ill patients with acute renal failure (ARF). We performed this study to identify predictors of mortality in critically ill ARF patients treated with CRRT. METHODS: We analyzed the data of 128 patients who were treated with continuous veno-venous hemofiltration (CVVH) or continuous veno-venous hemodiafiltration (CVVHDF) from May, 2002 to March, 2008. We compared the clinical data of survivors with non-survivors. RESULTS: On univariate analyses of prognostic factors of patients treated with CVVHDF, APACHE II scores (p=0.004), prothrombin time (INR) (p=0.033) and the number of inotropics used (p=0.005) were significantly lower in survivors than those of non-survivors. MAP (p=0.027), diastolic BP (p=0.015) and fibrinogen level (p=0.007) were significantly higher in survivors than those of non-survivors. Multivariate analysis revealed that APACHE II scores and fibrinogen level were the independent factors for the prediction of mortality. And on univariate analyses of prognostic factors of patients treated with CVVH, APACHE II scores (p=0.002) and the number of inotropics used (p=0.006) were significantly lower in survivors than in non-survivors. MAP (p=0.03), systolic BP (p=0.02) and diastolic BP (p=0.03) were significantly higher in survivors than in non-survivors. Multivariate analysis also revealed that APACHE II scores was the only independent factor for the prediction of mortality. CONCLUSION: This study showed that the independent prognostic factor for mortality in ARF patients treated with CRRT was the APACHE II score.

Henoch-Schonlein Nephritis in Adults: Renal Outcomes and Prognostic Factors / 대한신장학회지

PURPOSE: Renal involvement of Henoch-Schonlein (HS) purpura is common, and the long-term prognosis depends on the degree of renal injury. The aim of our study was to search for prognostic factors of HS nephritis and its relationship with clinical, laboratory, and renal pathologic features. METHODS: Study population consisted of 81 patients (age > or =15 years) with HS nephritis who had been admitted to Chungnam National University Hospital from January, 1991 to February, 2008. We reviewed the clinical symptoms, laboratory data and pathologic findings of kidney of total 81 patients, and also analyzed the relationship between these and renal prognosis. RESULTS: The mean age of patients was 40.6 years and the median duration of follow-up was 16 months. Male to female ratio was 1.08. Kidney biopsies were carried out in 61 patients (75.4%). Regarding renal function, 14 (17.3%) of patients reached moderate to severe renal insufficiency, and 4 (4.9%) progressed to end-stage renal disease within 16 months (median, range 1.5-196 months) after diagnosis. Complete clinical remission was achieved in 26 patients (32.1%). The presence of gastrointestinal symptoms, relapse of purpura, hypertension, nephrotic syndrome, renal insufficiency, increased level of serum immunoglobulin A, and the magnitude of crescents and sclerotic glomeruli were significantly associated with poor renal prognosis (all p<0.05). In multivariate logistic regression analysis, initial elevated serum creatinine level and hypertension were independent prognostic factors (p=0.013, p=0.007). CONCLUSION: We concluded that the initial clinical findings including renal function and hypertension are important prognostic factors in adult HS nephritis.