Results 71 to 80 of about 2,934 (200)

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network

American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.
ABSTRACT Report the prevalence of multiple genetic diseases in the Undiagnosed Diseases Network (UDN) cohort in the post‐exome‐sequencing era. UDN subjects underwent genome sequencing before inclusion in the cohort. Records of all UDN subjects until January 2024 were analyzed.
Alex F. Gimeno, Rory J. Tinker, Yutaka Furuta, Undiagnosed Diseases Network, John A. Phillips III   +4 more
wiley   +1 more source

A child with distal (type 1) renal tubular acidosis presenting with progressive gross motor developmental regression and acute paralysis

BMC Research Notes, 2017
Background Distal (Type 1) renal tubular acidosis (dRTA) is characterized by inability to secrete hydrogen irons from the distal tubule. The aetiology of dRTA is diverse and can be either inherited or acquired.
Randula Ranawaka, Kavinda Dayasiri, Manoji Gamage   +2 more
doaj   +1 more source

Severe Life‐Threatening Hypokalemia Primarily Presented With Isolated Paralysis: Case Series From Ethiopia

Clinical Case Reports, Volume 13, Issue 1, January 2025.
ABSTRACT Severe hypokalemia can primarily present as a weakness of the limbs, without any other clinical manifestation. A life‐threatening level of decreased serum potassium level can be unusually present with isolated weakness of the limbs and might be misdiagnosed, or the diagnosis may be delayed.
Getasew Kassaw Alemu, Seid Arage Asfaw, Lisanne Seifu Asres, Beniam Yohannes Kassa   +3 more
wiley   +1 more source

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

, 2009
Background: Several missense mutations of CACNA1S and SCN4A genes occur in hypokalemic periodic paralysis. These mutations affect arginine residues in the S4 voltage sensors of the channel.
P. F. Chinnery, D. M. Kullmann, M. B. Davis, E. Matthews, M. G. Hanna, S. Schorge, G. Meola, M. G. Sweeney, R. Sud, A. Haworth, R. Labrum   +10 more
core   +1 more source

Weakness in the Emergency Department: Hypokalemic Periodic Paralysis Induced By Strenuous Physical Activity

Turkish Journal of Emergency Medicine, 2015
SUMMARY: Hypokalemic periodic paralysis is a rare but serious disorder that is typically caused by a channelopathy. Thyrotoxicosis, heavy exercise, high carbohydrate meal and some drugs can trigger channelopathy in genetically predisposed individuals.
Nurettin Ozgur DOGAN, Nazire AVCU, Elif YAKA, Ali ISIKKENT, Ugur DURMUS   +4 more
doaj   +1 more source

Atypical clinical presentation of distal renal tubular acidosis: a case report registered in Amazonas, Brazil

Brazilian Journal of Nephrology, 2020
We report an unusual case of a 24-year-old girl with a history of recurrent hypokalemic paralysis episodes and skin lesions on the lower limbs and buttocks, both of which had an acute evolution.
Daniel Monteiro Queiroz, Rolando Guillermo Vermehren Valenzuela, Ana Wanda Guerra Barreto Marinho, Samanta Samara Bicharra dos Santos, Danielle Ochoa da Silva, Maykon da Silveira Dias, Lorena de Oliveira Cruz   +6 more
doaj   +2 more sources

Adult‐Onset Gitelman Syndrome: Case Analysis and Literature Review

Case Reports in Medicine, Volume 2025, Issue 1, 2025.
Background: Gitelman syndrome is a rare autosomal recessive renal tubulopathy, characterized by hypomagnesemia, hypokalemia, hypochloremia, and metabolic alkalosis. The syndrome commonly presents with symptoms such as fatigue, muscle cramps, and tetany, impacting patients’ quality of life.
Intissar Haddiya, Sara Ramdani, Aymane Kadi, Imane Machmachi, Mohammed Benabdelhak, Yassamine Bentata, Poulami Jha   +6 more
wiley   +1 more source

THYROTOXIC HYPOKALEMIC PERIODIC PARALYSIS PRESENTING WITH PARAPARESIS

, 2013
Thyrotoxic hypokalemic periodic paralysis (THPP) is a rare hyperthyroidism-related endocrine disorder seen predominantly in men of Asian origin. The main characteristics of the disease are hyperthyroidism, hypokalemia, muscle weakness and acute paralysis.
Dogru, Cumali, BİLDİK, FİKRET, KELEŞ, AYFER, DOĞAN, NURETTİN ÖZGÜR, DEMİRCAN, AHMET   +4 more
core  

Hypokalemic Periodic Paralysis Due To Distal Renal Tubular Acidosis

, 2015
Hypokalemic periodic paralysis (HPP) is a disorder that characterized by attacks of skeletal muscle paralysis depending on the changes in serum potassium levels, and can occur due to primary and secondary causes.
GÜLLÜ, MEHMET NEZİR, DURGUN, HASAN MANSUR, ZENGİN, YILMAZ, DURSUN, RECEP, GÜNDÜZ, ERCAN, İÇER, MUSTAFA   +5 more
core   +1 more source

Primary Sjögren’s syndrome presenting with hypokalemic periodic paralysis: A case series

Asian Journal of Medical Sciences
Tubulointerstitial nephritis (TIN) is the primary renal involvement associated with primary Sjögren’s syndrome (pSS). We present a series of female patients with hypokalemic paralysis due to distal renal tubular acidosis.
Margi Dipakkumar Patel , Naman Ashokbhai Popat , Chiranjeev Dilipkumar Mehta, Dharmendra J Vatsaraj   +3 more
doaj   +1 more source