Browsing by Author "Gillespie, Robert"
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Item A Case of Gitelman Syndrome with an Uncommon Presentation of Normomagnesemia(2024-03-21) Oyegoke, Sarah; Habiba, Nusrath; Gillespie, RobertBackground: Gitelman Syndrome (GS), also known as familial hypokalemia-hypomagnesemia, is an autosomal recessive renal tubular disorder that impacts sodium retention to electrolyte imbalance. It is a rare salt-losing tubulopathy that has a 1:40,000 prevalence. The disorder is mostly associated with symptoms including hypokalemic metabolic alkalosis with hypomagnesemia and low urinary calcium excretion. Case Information: An8-year-old female with a history of ADHD and bipolar disorder presents to her primary care clinic for initial concerns about low potassium and high cholesterol after getting routine lab work done outside of her primary care clinic. She had been receiving treatment at a mental health facility and had routine bloodwork done for her medications. The patient was referred to her primary care provider to follow up on the lab work. Her guardian had concerns about the child’s short stature and a bone age X-ray and labs were ordered. Her guardian also stated that her paternal grandmother had hypokalemia of unknown etiology. Her lab result showed hypokalemia (2.7 mmol/L) and hypercholesterolemia (192 mg/dL), so she was sent to a children’s hospital emergency room for immediate management. In the ER, the patient again had hypokalemia (2.5 mmol/L), elevated anion gap (21 mmol/L), and positive ketones. Her EKG showed prolonged QT interval and she was admitted to the hospital for further management. After receiving a potassium replacement, her EKG normalized, and the cardiologist cleared her for further follow-up. Genetic testing confirmed that she has Gitelman Syndrome, specifically a mutation in the SLC12A3 gene. Interestingly, Gitleman Syndrome usually presents with hypomagnesemia, but in this case, the patient only had hypokalemia and not hypomagnesemia. The patient was discharged with oral potassium and has been following up with a nephrologist on a regular basis. Conclusions: This case study showcases a rare case of Gitelman Syndrome with an unusual presentation of normomagnesemia. Future research should be conducted to solidify diagnostic criteria, evaluate abnormalities, and assess the long-term effects of the disease.Item "Kidney Bucks": An Incentives Program for Pediatric Dialysis Patients(2017-03-14) Ma, Brenda; Hamby, Tyler; Gillespie, Robert; Verma, AkankshaBackground: Pediatric dialysis patients are at risk for a variety of metabolic derangements, including hyperkalemia, hyperphosphatemia, and fluid overload. Management of these problems includes patient education, dietary restrictions, and the use of phosphate-binding medications. Hypothesis: The purpose of the present research is to examine the efficacy of an incentives program, “Kidney Bucks”, which offers rewards in exchange for fluid control and normal lab values for phosphorus and potassium. Methods: The study was a retrospective investigation initiated in January 2015 at Cook Children’s Medical Center (CCMC). To be included in this study, patients had to be dialysis patients from July 2014 to June 2015, and had to be between the ages of 5 and 21 during this time. Longitudinal analyses were utilized to test whether the amounts of Kidney Bucks earned--overall and for each of the three components--differed before and after the intervention. For this purpose, the amount of Kidney Bucks that patients would have hypothetically earned preintervention in 2014 was computed and compared to the amount actually earned postintervention in 2015. Fourteen peritoneal dialysis patients and 13 hemodialysis patients met the inclusion criteria, totaling 27 patients. Results: Peritoneal dialysis (P=.01) patients earned more Kidney Bucks overall postintervention. Hemodialysis (P=.02), but not peritoneal dialysis, patients earned more Kidney Bucks for potassium postintervention, but neither group differed in phosphorus values. Lastly, peritoneal dialysis, but not hemodialysis, patients earned much more Kidney Bucks for fluid control post-intervention (P Conclusions: The study’s limitations include the relatively small sample size and the retrospective design. This study has important implications for practitioners who face the challenge of dietary adherence in pediatric populations and, despite its limitations, serves as a good foundation for future studies.Item Pediatric Rhabdomyolysis and Plasmapheresis - A Review of Two Cases(2023) Abdali, Kulsum; Tran, Jessica; Hamby, Tyler; Gillespie, RobertBackground: Rhabdomyolysis is the breakdown of skeletal muscles causing leakage of cellular components like creatine kinase (CK) into the bloodstream. Clear guidelines for managing pediatric rhabdomyolysis currently do not exist. Traditional treatment involves prompt administration of intravenous (IV) fluids to counteract dehydration and prevent acute kidney injury (AKI). However, there have been limited case studies involving plasma exchange to treat severe cases of rhabdomyolysis in pediatrics. Case Information: Case 1: A 14-year-old female presented with muscle pain, headache, decreased urine output, and tea-colored urine. Her history included lifting weights and dehydration. Her presenting CK was 281,483 U/L and creatinine was 2.88 mg/dL. She was diagnosed with rhabdomyolysis, AKI, and transaminitis. CK levels rose to 410,000 U/L. On the second day, plasmapheresis was performed, and CK levels decreased after two more treatments. However, creatinine levels continued to increase. Renal biopsy showed acute tubular injury secondary to rhabdomyolysis. Hemodialysis was performed. Upon discharge, creatinine was 2.43 mg/dL, and she no longer required dialysis. Case 2: An 11-year-old female presented with a respiratory illness for two days. Her CK was 41,671 U/L. She was diagnosed with AKI and rhabdomyolysis induced by COVID-19. Standardized treatments were initiated with no improvement. CK levels reached over 410,000 U/L. Plasmapheresis was then initiated for three days, which lowered the CK levels significantly. Upon completion of plasmapheresis, her CK level dropped down to 40,000 U/L. Her CK levels normalized and her AKI became stable. Conclusions: Given the risks associated with high CK levels resistant to traditional IV hydration, it is crucial that the levels are brought down quickly to prevent long-term complications such as AKI. Therefore, plasmapheresis may be considered in severe, life-threatening rhabdomyolysis in pediatrics.Item The Unique Presentation of a Pediatric Patient with Gitelman's Syndrome (GS)(2022) Leonard, Nicholas; Habiba, Nusrath; Gillespie, RobertBackground: Gitelman's Syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is an autosomal recessive disorder that affects nearly 1 in 40,000 people worldwide. It is characterized in patients as hypokalemia, hypomagnesemia, hypercalciuria, and metabolic alkalosis. The disease results from 1 of nearly 140 different known mutations that can occur in the thiazide sensitive NaCl co-transporter located in the apical membrane of the distal convoluted tubule resulting in effects similar to thiazide diuretics. Most patients are diagnosed in adolescence and frequently present with complaints of tetany, facial paresthesia's, fatigue, and even delayed growth. Low potassium is especially concerning for the cardiovascular health of these patients. A potential complication is the development of ventricular arrhythmias, and even cardiac arrest, originating from prolonged potentials in cardiomyocytes that manifests as a wide QT interval on ECG. Case Presentation: This report outlines a unique presentation of an 8-year-old female with Gitelman's syndrome (GS). This patient experienced polyuria and polydipsia primarily at night as well as severe episodes of vomiting that her guardian later described as self-induced. Genetic testing for Gitelman's syndrome was eventually performed after labs indicated chronic hypokalemia. Interestingly, in contrast to the normal presentation of GS, labs for this patient showed elevated levels of magnesium instead of the usual hypomagnesemia seen in the majority GS patients. She was later found to have an abnormally prolonged QT interval likely resulting from her decreased potassium levels. Treatment for this patient's GS was potassium chloride to maintain potassium homeostasis. The patient of interest has experienced severe physical and sexually abusive relationships from a young age as well as family instability that eventually resulted in her placement into foster care. She was later placed on Guanfacine, Ritalin, and Zoloft for the treatment of her ADD/ADHD and depression symptoms. Conclusion: In this case report, we describe a pediatric patient and how her diagnosis of GS was made more complicated by abnormal lab values and her significant social circumstances.