Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.

Background: This study aimed to use whole-exome sequencing (WES) to diagnose ultra-rare renal diseases and the clinical impact of such an approach on patient care.

Methods: Clinical, radiological, pathological, and genetic findings were reviewed in the patients and their family members.

Results: Nine patients from nine unrelated Korean families were included in the study and evaluated.

Acute kidney injury in pediatric patients with rhabdomyolysis.

Purpose: This study aimed to evaluate the clinical findings in pediatric rhabdomyolysis and the predictive factors for acute kidney injury (AKI) in Korean children.

Methods: Medical records of 39 Korean children, who were newly diagnosed with rhabdomyolysis from January 2008 to December 2015, were retrospectively analyzed. The diagnosis was made from the medical history, elevated serum creatinine kinase level >1,000 IU/L, and plasma myoglobin level >150 ng/mL.

Pediatric renovascular hypertension: Treatment outcome according to underlying disease.

Background: Renovascular hypertension (RVH) accounts for 5-10% of pediatric hypertension, and can be associated with underlying disease involving other organs. The purpose of this study was to evaluate the clinical characteristics and assess the treatment outcomes of Korean pediatric patients with RVH.

Methods: The medical records of 25 Korean pediatric patients with RVH were retrospectively reviewed.

Posterior reversible encephalopathy syndrome caused by presumed Takayasu arteritis.

Takayasu arteritis (TA) is a chronic inflammatory disease of unknown etiology that affects mainly the aorta, main aortic branches, and pulmonary arteries. Diverse neurological manifestations of TA have rarely been reported in children. Posterior reversible encephalopathy syndrome (PRES) is a neuroradiological condition that presents with headache, seizure, visual disturbances, and characteristic lesions on imaging.

A novel mutation of in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome.

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in encoding basolateral ClC-Kb. The clinical phenotype of patients with mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported.

Dental implants with internal versus external connections: 5-year post-loading results from a pragmatic multicenter randomised controlled trial.

Purpose: To evaluate advantages and disadvantages of identical implants with internal or external connections.

Materials And Methods: One hundred and twenty patients with any type of edentulism (single tooth, partial and total edentulism), requiring one implant-supported prosthesis were randomly allocated in two equal groups to receive either implants with an external connection (EC) or implants of the same type with an internal connection (IC) (EZ Plus, MegaGen Implant, Gyeongbuk, South Korea), at four centres. Due to slight differences in implant design and components, IC implants were platformswitched while EC were not.

Metabolic features and renal outcomes of urolithiasis in children.

Aim: The incidence of pediatric urolithiasis has increased over the last century because of dietary changes, metabolic abnormalities, climate change, and genitourinary abnormalities. Data on pediatric urolithiasis in non-endemic countries are limited. The aim of this study was to evaluate the clinical findings and metabolic etiology of urolithiasis in Korean children.

Fluid overload and outcomes in neonates receiving continuous renal replacement therapy.

Background: Continuous renal replacement therapy (CRRT) has emerged as the modality of choice for the management of high-risk neonates with acute kidney injury (AKI), inborn errors of metabolism and multi-organ dysfunction. The aim of this study was to evaluate fluid overload (FO) and investigate the factors associated with outcomes in neonates undergoing CRRT.

Methods: We retrospectively reviewed the medical records of 34 neonates with AKI who were admitted to the neonatal intensive care unit (NICU) of Samsung Medical Center, Seoul, Republic of Korea between January 2007 and December 2014 where they underwent at least 24 h of CRRT.

D-penicillamine-induced ANA (+) ANCA (+) vasculitis in pediatric patients with Wilson's disease.

Anti-neutrophil cytoplasmic antibodies (ANCA) are associated with systemic vasculitis. The pathophysiology of ANCA-associated vasculitis (AAV) has not been clearly proven, and drug-induced ANCA-associated vasculitis has been reported. Wilson's disease is an inborn error of copper metabolism caused by a mutation in the copper transporting gene ATP7B, and traditional treatment is based on copper chelation with agents such as D-penicillamine.

Tacrolimus for children with refractory nephrotic syndrome: a one-year prospective, multicenter, and open-label study of Tacrobell®, a generic formula.

Background: Cyclosporine A and tacrolimus (TAC) are often used as a second-line treatment for children with refractory nephrotic syndrome (NS). This study was undertaken to investigate the efficacy and safety of Tacrobell®, a locally produced generic form of TAC.

Methods: This study was a one-year prospective, open-label, single-arm, multicenter trial.

Dental implants with internal versus external connections: 1-year post-loading results from a pragmatic multicenter randomised controlled trial.

Purpose: To evaluate advantages and disadvantages of identical implants with internal or external connections.

Materials And Methods: Two hundred patients with any type of edentulism (single tooth, partial and total edentulism) requiring one implant-supported prosthesis were randomly allocated in two equal groups to receive either implants with an external connection (EC) or implants of the same type but with an internal connection (IC) (EZ Plus, MegaGen Implant, Gyeongbuk, South Korea) at seven centres. Due to slight differences in implant design/components, IC implants were platform switched while EC were not.

Plasmaphresis therapy for pulmonary hemorrhage in a pediatric patient with IgA nephropathy.

IgA nephropathy usually presents as asymptomatic microscopic hematuria or proteinuria or episodic gross hematuria after upper respiratory infection. It is an uncommon cause of end-stage renal failure in childhood. Pulmonary hemorrhage associated with IgA nephropathy is an unusual life-threatening manifestation in pediatric patients and is usually treated with aggressive immunosuppression.

Microalbuminuria in normal Korean children.

Purpose: Although microalbuminuria is known as a predictor of clinical nephropathy and cardiomyopathy, few studies have investigated the incidence and reference range of microalbuminuria in healthy children. This study aimed to establish a reference range and to study the age-related trend for spot urine microalbumin/creatinine ratio in a Korean pediatric population.

Materials And Methods: 352 healthy children were studied from July 2007 through March 2010.

Surveillance and control of rubella in the republic of Korea from 2001 to 2009: the necessity for enhanced surveillance to monitor congenital rubella syndrome.

Objectives: The aim of this study was to review the epidemiologic data of rubella and congenital rubella syndrome (CRS) supplied by surveillance systems from 2001 to 2009 and to propose measures to improve the quality of the surveillance system in the Republic of Korea.

Methods: The epidemiological data for rubella and CRS cases reported to the Korea Centers for Disease Control and Prevention from 2001 to 2009 were retrospectively reviewed, and insurance reimbursement data from the Korea National Health Insurance Review Agency were collected for comparison.

Results: The number of yearly reported rubella cases to the Korea Centers for Disease Control and Prevention from 2001 to 2009 was 128, 24, 8, 24, 15, 12, 35, 30, and 36, respectively.