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Clinical Implication of Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease

Cho S, Paek JH, Park WY, Jin K, Kim DK, Han S, Kim Y

Tolvaptan, a non-peptide arginine vasopressin V2 receptor antagonist, is a newly developed drug to reduce kidney volume and preserve kidney function in autosomal dominant polycystic kidney disease (ADPKD) patients. We...
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The Natural Course of Total Kidney Volume in Patients with Autosomal Dominant Polycystic Kidney Disease undergoing Hemodialysis

Kim YN, Jung Y, Shin HS, Rim H, Park JG, Lee DY, Kim JK

Objectives: The natural course of native kidneys after hemodialysis initiation in patients with autosomal dominant polycystic kidney disease (ADPKD) remains poorly understood. Methods: We measured the total volumes of native kidneys...
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Clinical and genetic characteristics of Korean autosomal dominant polycystic kidney disease patients

Oh YK, Park HC, Ryu H, Kim YC, Oh KH

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. It is characterized by cyst growth in the kidneys, resulting in kidney enlargement and end-stage kidney disease....
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A new type of oculocutaneous albinism with a novel OCA2 mutation

Lee SY, Lee EJ, Byun JC, Jang KM, Kim SY, Hwang SK

Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders, characterized by hypopigmentation of the eyes, skin, and hair, which result in ocular abnormalities and a risk of developing...
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Comparison of chronic kidney disease trial designs and analysis strategies

Lawrence J

Background: Despite the large burden of chronic kidney disease (CKD), it is challenging to conduct adequately powered clinical trials in this setting. Sound and efficient trials are needed to advance...
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Autosomal Dominant Drusen Confirmed by Molecular Genetics

Song JS, Oh BL, Park UC, Yu HG, Lee EK

Purpose: To report a case of autosomal dominant drusen confirmed by molecular genetic testing and the clinical features and findings of a multimodal diagnostic imaging study. Case summary: A 32-year-old male...
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Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations

Kim HS, Kim HJ, Nam SH, Kim SB, Choi YJ, Lee KS, Chung KW, Yoon YC, Choi BO

Background and Purpose Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) are known to cause Charcot-Marie-Tooth disease (CMT). These mutations are very rare in most countries, but not in...
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Importance of family segregation in the American College of Medical Genetics and Genomics and Association of Molecular Pathology guidelines: Case of a Korean family with autosomal dominant polycystic disease

Kwon WK, Kim S, Jang JH, Kim JW

Since the American College of Medical Genetics and Genomics and Association of Molecular Pathology published their guidelines in 2015, most interpretations of genetic tests have followed them. However, all variants...
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Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics

Lee WW, Choi JM, Lee CG

The term dopa-responsive dystonia (DRD) is used to describe a group of neurometabolic disorders, which are characterized by dystonia, and are typically associated with diurnal fluctuations and respond to levodopa...
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Urinary Angiotensinogen in addition to Imaging Classification in the Prediction of Renal Outcome in Autosomal Dominant Polycystic Kidney Disease

Park HC, Kim J, Cho A, Kim DH, Lee YK, Ryu H, Kim H, Oh KH, Oh YK, Hwang YH, Lee KB, Kim SW, Kim YH, Lee J, Ahn C, KNOW-CKD Investigators Group

Background: Intrarenal renin-angiotensin system (RAS) is known to play the major role in the development of hypertension and renal progression in autosomal dominant polycystic kidney disease (ADPKD). Urinary angiotensinogen to...
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Familial Pityriasis Rubra Pilaris in Siblings

Woo SH, Park SW, Kwak HB, Park SK, Yun SK, Kim HU, Park J

  • KMID: 2440730
  • Korean J Dermatol.
  • 2019 Feb;57(2):97-98.
No abstract available.
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Craniometaphyseal dysplasia: Report of 2 cases with an emphasis on panoramic imaging features

Yeom HG

Craniometaphyseal dysplasia (CMD) is a rare hereditary disorder characterized by hyperostosis of the craniofacial bones and flared metaphyses of the long bones. Although some reports have described the dentomaxillofacial characteristics...
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Long-term Tolvaptan Treatment of Autosomal Dominant Polycystic Kidney Disease in Korea

Kim HY, Lee SJ, Kim BK, Kim M, Bae EH, Ma SK, Kim SW

A 22-year-old male patient was diagnosed with autosomal dominant polycystic kidney disease (ADPKD). He received conservative treatment with an angiotensin-converting enzyme inhibitor. Two years later, oral therapy, consisting of 60...
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Pedigree Analysis and Audiological Investigations of Otosclerosis: An Extended Family Based Study

Rekha S, Ramalingam R, Parani M

BACKGROUND AND OBJECTIVES: To analyse the audiometric profile and the pedigree of a large family with otosclerosis to understand the inheritance pattern and its implication in clinical management of the...
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Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis

Kim SY, Lee Y, Kang YE, Kim JM, Joung KH, Lee JH, Kim KS, Kim HJ, Ku BJ, Shong M, Yi HS

BACKGROUND: Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely...
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A Case of Focal Acral Hyperkeratosis with Autosomal Dominant Inheritance

Hong JY, Suh JH, Li K, Seo SJ

  • KMID: 2436848
  • Korean J Dermatol.
  • 2018 Aug;56(7):443-446.
Focal acral hyperkeratosis (FAH) is a rare genodermatosis inherited by autosomal dominant transmission; however, some sporadic cases have also been reported. FAH is characterized by multiple late-onset crateriform hyperkeratotic papules...
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Femoral Neuropathy Secondary to Autosomal Dominant Polycystic Kidney Disease: A Case Report

Yoo J, Lim KB, Lee HJ, Kim J, You EC, Kang J

Compressive femoral neuropathy is a disabling condition accompanied by difficulty in hip flexion and knee extension. It may result from retroperitoneal hematoma or bleeding, or from complications associated with pelvic,...
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Esophageal Artery Pseudoaneurysm and Takayasu Arteritis in a Patient with Autosomal Dominant Polycystic Kidney Disease

Kim H, Yu Y, Shim KE, Kim JE, Koh J, Yoon JW, Ahn C, Oh YK

A 47-year-old female previously diagnosed with ADPKD visited the hospital due to sudden pain in her upper abdomen and back. Esophagogastroduodenoscopy, contrast-enhanced abdominal computed tomography (CT), and CT angiography identified...
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Autosomal Dominant Polycystic Kidney Desease Coexisting with Renal Dysplasia. First Case Described and Followed Since Prenatal Period

Truyols C

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and causes terminal chronic renal failure. ADPKD is characterized by bilateral multiple renal cysts, which are produced...
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A novel mutation in the DNMT1 gene in a patient presenting with pure cerebellar ataxia

Algahtani , Shirah B

Mutations in the DNA methyltransferase 1 gene (DNMT1) were reported to cause two phenotypes: OMIM 604121 and OMIM 614116. The first phenotype includes autosomal dominant cerebellar ataxia, deafness, and narcolepsy,...
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