Diagnostic Challenge of Gitelman Syndrome: A Rare but Significant Cause of Electrolyte Imbalance
Published on: 1st August, 2023
Objective: This case study presents a young female patient diagnosed with symptomatic electrolyte disturbances, later confirmed as Gitelman syndrome (GS). It highlights the underlying pathophysiology and emphasizes the importance of its proper management. Background: GS is a rare genetic disorder affecting kidney electrolyte reabsorption, leading to symptoms like weakness, muscle cramps, fatigue, nausea, and vomiting. Diagnosis involves lab tests and genetic confirmation, with treatment comprising electrolyte supplementation and medications. Ongoing management is vital to prevent complications. Case presentation: A 23-year-old Caucasian female presented to the ED with sudden weakness in all extremities, thirst, and lightheadedness. Lab results showed hyperglycemia 166 (70-100 mg/dL),severe hypokalemia 1.1 (3.6-5.1 mmol/L), mild hypercalcemia 11 (8.9-10.4 mg/dL), and severe hypophosphatemia 0.6 (2.3-7.0 mg/dL). Incidentally, she had prior hypokalemia history from a motor accident hospitalization and managed it with KCl for a year but stopped when symptoms improved. She was treated with electrolyte replacement and discharged with oral potassium. Five days later, she returned with severe hypokalemia 1.3, mild hypercalcemia 10.7, and severe hypophosphatemia 0.6. A 24-hour urinary test showed distal convoluted tubulopathy indicative of GS. She was treated with replacement therapy and spironolactone, with instructions for ongoing supplementation and follow-up with a nephrologist. Discussion: GS is mostly caused by mutations in the SLC12A3 gene, affecting the kidneys’ sodium chloride cotransporter function, as confirmed in our patient. Conclusion: While GS has no cure, appropriate treatment with medication and dietary adjustments can enhance patients’ quality of life by maintaining electrolyte balance. Healthcare providers’ awareness is crucial for effective care and complication prevention.
A Case of X-Linked Hypophosphatemia: Exploring the Burden in a Single Family and the Significance of a Multidisciplinary Approach
Published on: 24th September, 2023
A 46-year-old lady was diagnosed clinically with X-linked hypophosphatemia (XLH) with a rare pathogenic variant detected using exome sequencing. Phosphate-regulating endopeptidase homologous X linked (PHEX) is normally expressed in osteoblasts and osteocytes, and senses phosphate regulation. More than 1000 PHEX variants have been detected to date, which are caused by missense, nonsense, and frameshift mutations in addition to splice variants and copy number changes. The aberration in the PHEX gene leads to the upregulation of fibroblastic growth factor 23 (FGF23), which leads to defects in phosphate metabolism. This results in impaired bone growth and mineralization, short and disproportionate stature, leg bowing, musculoskeletal pain, spontaneous dental abscesses, rickets, and osteomalacia in XLH patients. The spectrum of manifestations differs between pediatric and adult patients. In our case study, two of the patient’s children started showing symptoms at a younger age, unlike their mother. Timely diagnosis and the start of treatment would help in their better management and improved quality of life.
Search by University/Institution
Enter your University/Institution to find colleagues at HSPI.
Ensuring author's satisfaction with
- Friendly and hassle-free publication process
- Less production time of articles
- Constructive peer-review
- Enhancing journal reputation
- Regular feedback system
- Quick response to authors' queries
Most Viewed Keywords
Search Articles by Country
Get all latest articles in all Heighten Science Publications Inc journals by country.
Testmonials
"It was a pleasure to work with the editorial team of the journal on the submission of the manuscript. The team was professional, fast, and to the point".
NC A&T State University, USA
Moran Sciamama-Saghiv
Your journal co-operation is very appreciable and motivational. I am really thankful to your journal and team members for the motivation and collaboration to publish my work.
Assistant Professor, UCLAS Uttaranchal University, Dehradun, India
Archna Dhasmana
I wanna to thank clinical journal of nursing care and practice for its effort to review and publish my manuscript. This is reputable journal. Thank you!
Wollo University, Ethiopia
Atsedemariam Andualem
"An amazing experience with the Journal of Advanced Pediatrics and Child Health. Very fast blind review with pertinent corrections and suggestions. I highly recommand both the journal and the editor."
Chaimae Khairoun
Your service is very good and fast reply, Also your service understand our situation and support us to publication our articles.
Palestine College of Nursing, Khan Younis, Gaza Strip, Palestine
Ayman M Abu Mustafa
We really appreciate your efforts towards our article, the professional way you handle our request for exemption from charges. It was a great honor for us to publish in your magazine.
Achraf elbakkaly
I would like to thank JPRA for taking this decision. I understand the effort it represents for you. I'm truly happy to have the paper published in JPRA. And I'll certainly consider JPRA for my next publications as I was satisfied of the service provided, the efficiency and promptness of the interactions we had.
Emmanuel BUSATO
"This is my first time publishing with the journal/publisher. I am impressed at the promptness of the publishing staff and the professionalism displayed. Thank you for encouraging young researchers like me!"
Ekiti State University, Nigeria
Adebukola Ajite
Thank you for your attitude and support. I am sincerely grateful to you and the entire staff of the magazine for the high professionalism and fast quality work. Thank you very much!
USA
Igor Klepikov
I would like to mention that I had a wonderful experience working with HSPI. The whole process right from manuscript submission to peer review till the publication of the article was very prompt & efficient. I wish you good luck for the future.
Amarjeet Gambhir
HSPI: We're glad you're here. Please click "create a new Query" if you are a new visitor to our website and need further information from us.
If you are already a member of our network and need to keep track of any developments regarding a question you have already submitted, click "take me to my Query."