Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions

Zahed, Hengameh; Sparks, Teresa N.; Li, Ben; Alsadah, Adnan; Shieh, Joseph T.C.

doi:10.1016/j.jpeds.2017.06.040

Cited by 7 publications

(2 citation statements)

References 51 publications

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“…Genetic testing was recommended for all clinically suspected GS patients in KDIGO guideline, but lack of hot-spot mutations, large size of the gene, interpretive challenges of data and limited cost-effectiveness impeded its practical application ( 1 , 25 ). Previous studies have shown inconsistent results of correlations between phenotype and genotype in GS patients ( 8 , 26 , 27 ).…”

Section: Discussionmentioning

confidence: 99%

Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients

et al. 2018

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Traditional clinical diagnostic criteria for Gitelman syndrome (GS) including hypomagnesemia and hypocalciuria have been challenged by reports of atypical manifestations recently, as well as the development of genetic testing. Hydrochlorothiazide (HCT) test is a diagnostic method different from the traditional biochemical parameters, which could evaluate the function of thiazide-sensitive sodium-chloride co-transporter (NCC) in vivo by a small dose of NCC inhibitor HCT. In this retrospective study, we compared the diagnostic significance of hypomagnesemia, hypocalciuria, and the reaction of HCT test, among Chinese patients with GS confirmed by genetic test. For patients who were clinically suspected of GS manifestations, SLC12A3 gene was sequenced to make genetic diagnosis. A total of 83 GS and 19 control patients were recruited, among which 37 underwent HCT test according to the standard process. Compared with the gold standard of genetic diagnosis, both the diagnostic sensitivity (93.10%) and specificity (100.00%) of the HCT test were much higher than those of hypomagnesemia and/or hypocalciuria. The area under the receiver operating characteristic (ROC) curve was 1.000 (95% CI 0.905–1.000) for HCT test, higher than the values using hypomagnesemia and/or hypocalciuria. The cost of HCT test was around $54, much lower than genetic diagnosis. In conclusion, besides traditional hypomagnesemia and hypocalciuria, HCT test could be a valuable tool in the clinical diagnosis of Chinese GS patients.

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Section: Discussionmentioning

confidence: 99%

Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients

et al. 2018

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“…It is also important to integrate research in genetics and medicine to find new treatments and prevent Poland syndrome [7]. The development of technologies in genetic analysis and imaging diagnostics opens up new opportunities for early diagnosis and individualised treatment [8,9,10].…”

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confidence: 99%

Poland Syndrome: Causes, Diagnosis and Treatment

Дживак,

Процайло,

Кучер

et al. 2024

Перспективи та інновації науки

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Poland syndrome, also known as anoplysia, is a rare congenital condition characterized by incomplete development of chest muscles and bones, often accompanied by anomalies in internal organs. This paper provides a comprehensive overview of Poland syndrome, delving into its clinical features, etiology, diagnostic methods, and treatment options. Despite being rare, the impact of Poland syndrome on affected individuals is significant, necessitating a multidisciplinary approach for management. The syndrome's clinical manifestations vary widely, encompassing chest wall deformities, hand anomalies, rib defects, and breast underdevelopment. While the exact causes remain elusive, genetic and environmental factors are thought to play a role. Recent research has explored potential genetic predispositions and maternal factors such as smoking and cocaine Журнал «Перспективи та інновації науки» (Серія «Педагогіка», Серія «Психологія», Серія «Медицина») № 2(36) 2024 912 use during pregnancy. Diagnostic methods include clinical examination, radiography, ultrasound, CT scans, MRI, and genetic testing, often requiring collaboration with specialists. Treatment strategies aim to address both cosmetic concerns and functional deficits, with surgical interventions tailored to individual patient needs. Recent studies have proposed classification systems and treatment algorithms to guide surgical decision-making, emphasizing the importance of patient-specific approaches. Despite advancements in understanding and management, further research is warranted to elucidate the underlying mechanisms and optimize treatment outcomes for individuals with Poland syndrome. Improved understanding of this complex condition will facilitate early diagnosis, personalized treatment plans, and enhanced quality of life for affected individuals and their families.

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Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing

Homma

Freire

Kawahira

et al. 2019

The Journal of Pediatrics

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Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions

Cited by 7 publications

References 51 publications

Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients

Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients

Poland Syndrome: Causes, Diagnosis and Treatment

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing

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