Results 61 to 70 of about 3,169 (170)

Novel Generation‐Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin‐1 (FBN1) gene on Chromosome 15q21.1. A 3‐year‐old female presented to the clinic with MFS and a family history of an affected maternal uncle and maternal great‐aunt.
Breanna Beers, Hamilton Wexler, Gretchen MacCarrick, Aneek Das Bhowmik   +3 more
wiley   +1 more source

Gitelman Syndrome in a Child Presenting With Polyuria and Polydipsia: Diagnostic Challenges in a Resource‐Limited Setting

Case Reports in Nephrology, Volume 2026, Issue 1, 2026.
Gitelman syndrome (GS) is a rare inherited renal salt‐wasting tubulopathy characterized by hypokalemia, hypomagnesemia, and hypocalciuria. Its nonspecific presentation often overlaps with that of more common pediatric conditions, leading to delayed diagnosis, particularly in resource‐limited settings.
Erneus Ernest, Devis Simbila, Poorani Gurumallesh Prabu   +2 more
wiley   +1 more source

Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report

Case Reports in Genetics
Uniparental disomy (UPD) constitutes an unconventional mode of inheritance that disrupts the typical biparental genetic contribution and may result in phenotypic abnormalities.
David Lee Curtis, Nasim Bekheirnia, Lorraine Potocki, Ludmila Matyakhina, Mir Reza Bekheirnia   +4 more
doaj   +1 more source

Anaesthesia for laparoscopic cholecystectomy in Bartter′s syndrome

Indian Journal of Anaesthesia, 2010
Bartter′s syndrome is a rare inherited anamoly with defect in the thick segment of the ascending limb of the loop of Henle, with reduced reabsorption of potassium.
Bala S Bhaskar, G V Rao, Sanjeev B Joshi, S K Arun, S K Ajay   +4 more
doaj   +1 more source

Persistent renal dysfunction post-chemotherapy: a diagnostic conundrum in pediatric cancer survivorship – a case report

BMC Pediatrics
Background Late-onset type II Bartter syndrome is an exceedingly rare condition, with only six documented cases presenting symptoms and signs beyond infancy. We report a unique case of late-onset type II Bartter syndrome with an atypical presentation and
Jhao-Jhuang Ding, Shih-Hua Lin, Tai-Wei Wu, Min-Hua Tseng   +3 more
doaj   +1 more source

Chemotherapy-induced tubulopathy: a case report series

Frontiers in Nephrology
Acquired tubulopathies are frequently underdiagnosed. They can be characterized by the renal loss of specific electrolytes or organic solutes, suggesting the location of dysfunction.
Mario Alamilla-Sanchez, Juan Daniel Diaz Garcia, Valeria Yanez Salguero, Fleuvier Morales Lopez, Victor Ulloa Galvan, Francisco Velasco Garcia-Lascurain, Benjamin Yama Estrella   +6 more
doaj   +1 more source

Bartter's Syndrome

European Journal of Therapeutics, 1995
Bartter's Syndrome is characterized by the impairment of chloride reabsorbtion in the distal tubules of the kidney. As a result, the kidney loses chloride and persistent hypokalemia, hypochloremia and metabolic alkalosis ensue. Most cases come to the attention of the pediatrican for the early failure to thrive observed in childhood.
İsmail GÖÇMEN, Ferhan KARADEMİR, Orhan ERKAN, Arif BAHAR, Halit ÖZKAYA, Ziya METE   +5 more
openaire   +1 more source

Comorbid Gitelman Syndrome and Schizophrenia: A Case Report [PDF]

Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2006
In this report, a 28 year old schizophrenic patient who had Gitelman syndrome comorbidity is presented and the differential diagnosis is discussed. Gitelman syndrome is, defined as an autosomal recessive disorder featuring hypokalemic metabolic alkalosis,
Huriye Gümüş, Cem İlnem, Ferhan Yener   +2 more
doaj  

Gangguan Pendengaran pada Anak dengan Sindrom Bartter

Sari Pediatri
Latar belakang. Sindrom Bartter merupakan gangguan tubulus ginjal ditandai dengan hiperaldosteronisme sekunder, alkalosis metabolik hipokalemia, disertai tekanan darah yang normal atau rendah.
Muyassaroh Muyassaroh, Santo Mudha Pratomo, Heru Muryawan   +2 more
doaj   +1 more source

Captopril and Bartter’s Syndrome [PDF]

Nephron, 2008
H, Sasaki, M, Okumura, T, Kawasaki
openaire   +2 more sources