Clinical Genetics Practice: Integrating Paediatric Patient and Family-Centred Care

2014 ◽  
pp. 209-220 ◽  
Author(s):  
Cheryl Shuman ◽  
Riyana Babul-Hirji
Keyword(s):  
Paediatric Patient ◽  
Clinical Genetics

Clinical genetics

1990 ◽  
Vol 152 (9) ◽  
pp. 496-496
Author(s):  
Jill Forrest
Keyword(s):  
Clinical Genetics

scholarly journals Correcting hypokalaemia in a paediatric patient with Bartter syndrome through oral dose of potassium chloride intravenous solution

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110197
Author(s):  
Salman Alasfour ◽  
Haya S Alfailakawi ◽  
Yousif A Shamsaldeen
Keyword(s):  
Paediatric Patient ◽  
Potassium Chloride ◽  
Serum Potassium ◽  
Nasogastric Tube ◽  
Potassium Concentration ◽  
Oral Route ◽  
Bartter Syndrome ◽  
Intravenous Route ◽  
Serum Potassium Concentration ◽  
Main Challenge

Bartter syndrome is a rare autosomal recessive disorder characterized by hypokalaemia. Hypokalaemia is defined as low serum potassium concentration ˂3.5 mmol/L, which may lead to arrhythmia and death if left untreated. The aim of this case report was to normalize serum potassium concentration without the need for intravenous intervention. A 5-month-old male of 2.7 kg body weight diagnosed with Bartter syndrome was admitted to the general paediatric ward with acute severe hypokalaemia and urinary tract infection. The main challenge was the inability to administer drugs through intravenous route due to compromised body size. Therefore, we shifted the route of administration to the nasogastric tube/oral route. A total of 2 mL of concentrated intravenous potassium chloride (4 mEq potassium) were dissolved in distilled water and administered through nasogastric tube. Serum potassium concentration was rapidly normalized, which culminated in patient discharge. In conclusion, shifting drug administration from intravenous to oral route in a paediatric patient with Bartter syndrome includes numerous advantages such as patient convenience, minimized risk of cannula-induced infection, and reduced nurse workload.

Genetic counselors, patients', and carers’ views on an Australian clinical genetics service information system

2021 ◽  
Author(s):  
Catherine Speechly ◽  
Rachael Stenhouse ◽  
Yemima Berman ◽  
Kristine Barlow‐Stewart ◽  
Jane Fleming ◽  
...  
Keyword(s):  
Information System ◽  
Genetic Counselors ◽  
Clinical Genetics ◽  
Service Information
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