scholarly journals A Case Report of Recurrent Hypokalemia During Pregnancies Associated With Nonaldosterone-Mediated Renal Potassium Loss

2021 ◽  
Vol 8 ◽  
pp. 205435812110174
Author(s):  
Pairach Pintavorn ◽  
Stephanie Munie
Keyword(s):  
African American Female ◽  
Gain Of Function ◽  
Rare Mutation ◽  
Aldosterone Level ◽  
Serum Aldosterone ◽  
History Of ◽  
Potent Agonist ◽  
Urine Potassium ◽  
Potassium Replacement ◽  
Epithelial Sodium Channel Enac

Rationale: Geller et al reported a rare mutation in the mineralocorticoid receptor (MR) resulting in constitutive MR activity. Progesterone, normally an MR antagonist, acts as a potent agonist with this mutation. Progesterone levels can increase 100-fold during pregnancy and thus lead to increased MR activity in this setting, resulting in hypertension (HTN) and hypokalemia during pregnancy and resolution of hypokalemia after delivery. Presenting concerns: Our patient was a 33-year-old African American female with a history of pregnancy-induced HTN associated with hypokalemia during her last pregnancy. She presented with muscle weakness from profound hypokalemia complicated by nephrogenic diabetes insipidus (DI) and rhabdomyolysis. Diagnosis: Her admission potassium was 1.9 mmol/L (3.5-5.1 mmol/L) with a 24-hour urine potassium of 35 mmol per day and an unmeasurable serum aldosterone level. Her potassium normalized 1 day after delivery off potassium supplementation and amiloride, which were last given 1 day prior to her delivery. Recurrent hypokalemia from nonaldosterone-mediated renal potassium wasting during pregnancy (with normal potassium in a nongestational state) is consistent with the cases of gain-of-function mutation in MR that Geller et al report. A definite diagnosis requires genetic analysis. Interventions: Her hypokalemia was refractory to potassium replacement but quickly responded to an inhibitor of the epithelial sodium channel (ENaC), amiloride. Outcomes: Her potassium normalized on amiloride 10 mg per day and KCL 40 mEq daily during the remainder of her pregnancy, and her nephrogenic DI resolved after this correction of hypokalemia. After her delivery, her potassium remained normal off the potassium supplements and amiloride. Novel findings: Pregnancy-induced hypokalemia from an activating MR mutation has rarely been reported. Pregnancy-induced HTN is often the first differential diagnosis in a patient who develops worsening in her HTN during pregnancy. We should also consider the possibility of a gain-of-function mutation in MR in these patients who also have associated hypokalemia.

Adrenocortical Carcinoma With Concomitant Myelolipoma in a Patient With Hyperaldosteronism

2005 ◽  
Vol 129 (6) ◽  
pp. e144-e147 ◽  
Author(s):  
Xichun Sun ◽  
Alberto Ayala ◽  
Claudia Y. Castro
Keyword(s):  
Adrenocortical Carcinoma ◽  
Severe Hypertension ◽  
Serum Potassium Level ◽  
Venous Invasion ◽  
Ki 67 ◽  
Unilateral Adrenalectomy ◽  
Aldosterone Level ◽  
Serum Aldosterone ◽  
Mitotic Figures ◽  
Atypical Mitosis

Abstract We present a case of aldosterone-secreting adrenocortical carcinoma with concomitant myelolipoma. To the best of our knowledge, this is the first such reported case. The patient was a 43-year-old man with severe hypertension. Clinical workup revealed an increased serum aldosterone level, hypokalemia, and metabolic alkalosis, and a left adrenal mass was found on computed tomography. The patient underwent a unilateral adrenalectomy, which led to improvement in blood pressure, the serum potassium level, and aldosterone concentration. The tumor weighed 70 g and measured 5.0 cm. On microscopic examination, we found necrosis, focal cytologic atypia, diffuse eosinophilic cells comprising more than 75% of the tumor, 5 to 7 mitotic figures per 50 high-power fields, rare atypical mitosis, and venous invasion. At the periphery of the tumor but within the capsule, microscopic areas of myelolipoma were seen. Ki-67 staining was positive in 20% of the tumor cells. Although rare, aldosterone-secreting carcinoma associated with myelolipoma should be included in the differential diagnosis of adrenal gland masses.

scholarly journals Severe non-exertional rhabdomyolysis from weight loss supplement in sickle cell trait: A perfect storm?

2018 ◽  
Vol 5 (1) ◽  
pp. 35
Author(s):  
Titilope Olanipekun ◽  
Valery Effoe ◽  
Ganiat Adeogun ◽  
Agniezka Gaertig ◽  
Myrtle White ◽  
...  
Keyword(s):  
Weight Loss ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Elevated Serum ◽  
African American Female ◽  
Garcinia Cambogia ◽  
Exertional Rhabdomyolysis ◽  
Serum Creatine Phosphokinase ◽  
History Of

Exertional rhabdomyolysis from sickle cell trait has been documented. Also, cases of rhabdomyolysis from the use of weight loss supplements in the setting of sickle cell trait and exertion have been described. However, the role of sickle cell trait in non-exertional rhabdomyolysis is not clear. We present a case of severe non-exertional rhabdomyolysis from weight loss supplement in a patient with sickle cell trait.A 45-year-old African American female with sickle cell trait presented to the emergency department with two days history of fatigue and mild breathlessness. She also reported diarrhea and vomiting for five days before presentation. She admitted to taking Garcinia cambogia (a dietary supplement) for weight loss one week prior to the onset of symptoms. She denied alcohol or drug use, rigorous physical activity or trauma.She was dehydrated on examination. Laboratory values revealed markedly elevated serum creatine phosphokinase (CPK) and creatinine levels. Garcinia cambogia was discontinued and she was hydrated with intravenous fluids. Her CPK and creatinine levels significantly trended down and she was discharged home with no apparent sequelae.Our patient had multiple episodes of diarrhea and vomiting likely from the use of Garcinia cambogia. We believe she suffered non-exertional rhabdomyolysis from dehydration in the setting of sickle cell trait. Though dietary weight loss supplements are marketed as generally safe, this case suggests otherwise. We emphasize that clinicians routinely inquire about use of these supplements and provide appropriate counseling to patients on the adverse effects, especially among those with sickle cell trait.

scholarly journals A rare case of a patient with systemic lupus erythematosus who presented with Rowell syndrome responding to treatment with hydroxychloroquine and prednisone with 1 year of relapse-free survival on belimumab

2021 ◽  
Author(s):  
Arya Loghmani ◽  
Barrett Ford ◽  
Stephen Derbes
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Diagnostic Criteria ◽  
Lupus Erythematosus ◽  
Previous History ◽  
Original Description ◽  
African American Female ◽  
Systemic Lupus ◽  
Relapse Free Survival ◽  
Free Survival ◽  
History Of

ABSTRACT Rowell syndrome, first described in 1963 by Rowell et al., is an infrequently reported and unique syndrome occurring in patients with systemic lupus erythematosus (SLE). This syndrome characteristically presents with erythema-multiforme-like lesions as well as other specific immunologic and histopathological manifestations. Since Rowell’s original description, diagnostic criteria have been proposed and modified to better describe the syndrome. We describe a 32-year-old African American female patient with a previous history of SLE who presented with dermatologic, immunologic, and histopathological manifestations that fit the modified diagnostic criteria for Rowell syndrome.

Ethics Committees at Work: A Family's Right to Know?

1997 ◽  
Vol 6 (1) ◽  
pp. 93-99
Author(s):  
Stephanie Simon
Keyword(s):  
Ethics Committees ◽  
Health Clinic ◽  
African American Female ◽  
Hiv Diagnosis ◽  
Service Department ◽  
Dialysis Facility ◽  
History Of ◽  
Community Mental Health Clinic ◽  
Stage Renal Disease ◽  
End Stage

In January 1995 we (Social Service Department) received a referral for an in-patient Mrs. B. Mrs. B was a 56-year-old, African-American female who had been admitted to our facility with a diagnosis of R/O cerebral vascular accident. When first seen, Mrs. B evidenced clear cognitive impairments, including slurred speech, decreased concentration and memory, and tangentiality. The history she was able to provide was sketchy, but did Include the following: Mrs. B was a recent widow, her husband having died in a nursing home from. AIDS 2 weeks prior to admission. She had been diagnosed HIV+ in 1992, when she began hemodialysis for chronic renal failure. She believed she had contracted the virus heterosexually from her husband. She denied any history of substance abuse. Mrs. B had seven adult children, none of whom were aware of her HIV diagnosis. Prior to admission, she was living alone. Prior to 1992 Mrs. B had worked as an office cleaner, and later qualified for Social Security and Medicare benefits. She had once previously been seen in our community mental health clinic for depression, and was treated at a nearby satellite dialysis facility for end-stage renal disease.

scholarly journals Ezetimibe: An Unusual Suspect in Angioedema

2020 ◽  
Vol 2020 ◽  
pp. 1-3 ◽  
Author(s):  
Tiffany Lu ◽  
Tarundeep Grewal
Keyword(s):  
Clinical History ◽  
Prior History ◽  
African American Female ◽  
Drug Induced ◽  
Current Case ◽  
Normal Limits ◽  
Inhibitor Level ◽  
The Face ◽  
History Of ◽  
Esterase Inhibitor

We describe a case of new onset angioedema likely due to Ezetimibe therapy in an elderly patient with a prior history of drug-induced bradykinin reactions who had been on the medication for multiple years. This is the second reported incidence of Ezetimibe-associated angioedema in literature. A 90-year-old African American female presented with angioedema of the face and oral mucosa with associated difficulty speaking developing hours after taking Ezetimibe 10 mg PO. She denied adding any new or unusual foods to her diet. A thorough clinical history determined Ezetimibe was the likely culprit. Ezetimibe was immediately discontinued. The swelling subsided after administration of methylprednisolone 125 mg, epinephrine 1 mg/mL, injection 0.3 mL, diphenhydramine 25 mg, and famotidine 20 mg BID within 48 hours. The patient’s C1 esterase inhibitor level was measured to be within normal limits. Food panel allergy testing showed very low or undetectable IgE levels in all categories. Based on the limited reports in literature and our current case, we conclude that there is a likely association of angioedema with Ezetimibe. The mechanism, however, is unknown since it is not related to bradykinin or mast cell-mediated activation. Clinicians should advise patients taking Ezetimibe to report any swelling of the lips, face, and tongue and to immediately discontinue its use if these signs are present.

Psychiatric Manifestations With Sacubitril/Valsartan: A Case Report

2019 ◽  
Vol 33 (4) ◽  
pp. 553-557 ◽  
Author(s):  
Jessica Wooster ◽  
Elizabeth A. Cook ◽  
Denver Shipman
Keyword(s):  
Sleep Disturbances ◽  
Psychiatric Symptoms ◽  
Cranial Computed Tomography ◽  
Intracranial Volume ◽  
African American Female ◽  
Dose Increase ◽  
Reduced Ejection Fraction ◽  
Neprilysin Inhibitor ◽  
Angiotensin Receptor Neprilysin Inhibitor ◽  
History Of

Sacubitril/valsartan is an angiotensin receptor-neprilysin inhibitor approved for the treatment of heart failure with reduced ejection fraction (HFrEF). Valsartan is well studied, but sacubitril has much left to understand. This report describes a 31-year-old African American female diagnosed with HFrEF who presented with a 7-day history of psychiatric symptoms following a dose increase in sacubitril/valsartan. Prior to the dose increase, the patient had no history of psychiatric diagnoses, but upon hospital presentation, family described instances of confabulation, paranoia, delusions, hallucinations, and sleep disturbances. Laboratory tests were unremarkable, ruling out infectious processes and illicit substance use. However, cranial computed tomography scans depicted intracranial volume loss abnormal for age with commensurate mild ventricular enlargement. Sacubitril/valsartan was discontinued inpatient, symptoms resolved, and the medication intolerance was documented. Clinical trials involving sacubitril/valsartan lack systematic documentation of cognitive symptoms, but active studies exploring the role of neprilysin inhibition may expand knowledge of possible psychiatric adverse effects.

Cryptococcal pneumonia in an adolescent with a gain-of-function variant in signal transduction and activator of transcription 1 (STAT1)

2020 ◽  
Vol 13 (4) ◽  
pp. e234120
Author(s):  
Lisa Marinelli ◽  
Elizabeth Ristagno ◽  
Philip Fischer ◽  
Roshini Abraham ◽  
Avni Joshi
Keyword(s):  
Signal Transduction ◽  
Exome Sequencing ◽  
Opportunistic Infections ◽  
Clinical Phenotype ◽  
Adolescent Male ◽  
Gain Of Function ◽  
Autoimmune Hypothyroidism ◽  
Whole Exome ◽  
History Of ◽  
Antibiotic Courses

An adolescent male with a history of autoimmune enteropathy, autoimmune hypothyroidism, aphthous stomatitis and recurrent oral Candida infections only in the setting of curative antibiotic courses presented with cryptococcal pneumonia and perihilar adenitis, which was successfully treated with antifungal therapy. The patient had a complex history with several immunological anomalies. Whole exome sequencing revealed a known STAT1 pathogenic variant, associated with gain of function (GOF). This case expands our understanding of the broad clinical phenotype manifested by STAT1 GOF and emphasises the importance of consideration of this diagnosis in patients presenting with opportunistic infections and autoimmunity.

scholarly journals MON-084 Hyperosmolar Hyperglycemic State as Initial Presentation of Type 1 Diabetes in Children

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Fabiola D’Ambrosio ◽  
Isabella Marranzini-Rodriguez ◽  
Roxana Aguirre Castaneda ◽  
Claudia Boucher-Berry
Keyword(s):  
African American ◽  
Early Recognition ◽  
Fluid Management ◽  
Low Frequency ◽  
Serum Glucose ◽  
African American Female ◽  
Appropriate Treatment ◽  
Hyperosmolar Hyperglycemic State ◽  
History Of ◽  
Sugary Beverages

Abstract INTRODUCTION: We present 2 pediatric patients with Hyperosmolar Hyperglycemic State (HHS) at diabetes onset. CASE 1: 3 year old African American female presented to the pediatrician office with a 5 day history of polydipsia, polyuria and emesis. POCT glucose read high and patient was transferred to the PICU. Laboratory studies were significant for serum glucose of 1032 mg/dl, Na 128 mMOL/L (corrected 142mMOL/L), VBG showed pH 7.36, HCO3 20 mMOL/L, Serum osm 331 mOsm/Kg. Patient received a 20ml/kg bolus of 0.9%NaCl, followed by 2 times maintenance IV fluids and glargine 2 units. Glucose dropped from 418 to 122 mg/dl in 3 hours. Due to this Dextrose was added and IVF rate was decreased. CASE 2: 8 year old African American obese male was admitted to the PICU for management of new onset diabetes. He presented with 3 days of flu-like symptoms and worsening drowsiness. Patient had increased consumption of large quantities of sugary beverages due to increased thirst. Laboratory workup: serum glucose of 2309 mg/dl, Na 133 mMOL/L (corrected 168 mMOL/L), pH 7.13, HCO3 10 mMOL/L. Patient was given 30 cc/kg NS bolus followed by an insulin drip of 0.1 u/kg/hour. Repeat studies 3 hours later showed a serum glucose of 1,414 mg/dl, Na 152 mMol/L (corrected 184 mMOL/L), pH 7.19, HCO3 17 mMOL/L, and serum osmolality of 408 mOsm/Kg. IVF were adjusted to correct the water deficit and insulin drip was decreased to 0.05u/kg/hour. DISCUSSION: HHS continues to be a challenging diagnosis due to its low frequency compared with Diabetic Ketoacidosis especially when presenting at a very young age. Most practitioners will mistake the presentation for DKA and start an insulin drip. The early use of insulin is not necessary in the setting of HHS due to the risk of complications. A fast drop in glucose decreases the osmotic pressure and compromises the circulatory status with a higher chance of thromboembolism. In mixed HHS and DKA, the management aligns more with the DKA management but the amount of fluids needed is higher and insulin infusion may cause fast drop of glucose with potential decrease of intravascular volume as in our second patient. It is imperative that the diagnosis of HHS is made early so that the appropriate treatment can be instituted. CONCLUSION: Appropriate fluid administration and delay in insulin administration are key in the management of HHS. The awareness of this possible presentation and the early recognition and appropriate fluid management are needed to improve outcomes. REFERENCE: Zeitler, Phil, et al. “Hyperglycemic Hyperosmolar Syndrome in Children: Pathophysiological Considerations and Suggested Guidelines for Treatment.” The Journal of Pediatrics, vol. 158, no. 1, 2011, doi:10.1016/j.jpeds.2010.09.048

scholarly journals A rare cause of wheezing

2016 ◽  
Vol 4 (1) ◽  
Author(s):  
Alexander H. Cho ◽  
Jessica Logan ◽  
Jalil Ahari
Keyword(s):  
Granular Cell ◽  
African American Female ◽  
Lobe Bronchus ◽  
Submucosal Tumors ◽  
Sputum Production ◽  
Endobronchial Lesion ◽  
History Of ◽  
Chest X Ray ◽  
The Right ◽  
Tomography Scan

A 24-year-old African American female nonsmoker, with a reported history of asthma presented to the hospital with 2 weeks of shortness of breath and sputum production. She had a chest X-ray and computed tomography scan that displayed evidence of a right upper lobe collapse. She subsequently had a bronchoscopy that revealed an endobronchial lesion at the opening of the right upper lobe bronchus. Biopsies performed were consistent with a granular cell tumor. Granular cell tumors are rare submucosal tumors of Schwann cell origin. Resection of the right upper lobe resolved her symptoms and wheezing.

Rhabdomyolysis and Hepatotoxicity From Valproic Acid: Case Reports

2019 ◽  
pp. 089719001988288 ◽  
Author(s):  
Cucnhat P. Walker ◽  
Subrata Deb
Keyword(s):  
Valproic Acid ◽  
Acute Kidney Injury ◽  
Case Reports ◽  
Alternative Therapy ◽  
Kidney Injury ◽  
African American Female ◽  
Coagulation Disorders ◽  
Hyperammonemic Encephalopathy ◽  
History Of ◽  
Hispanic Male

Valproic acid (VPA) has been widely used more frequently as its approved indications have been expanded. More and more case reports on rare toxicities have been published in the literature (ie, hepatotoxicities, hyperammonemic encephalopathy, coagulation disorders, pancreatitis, thrombocytopenia). In spite of the long history of VPA, there is a lack of awareness of VPA toxicities among clinicians. We present two cases of a 44-year-old African American female and a 60-year-old Hispanic male taking chronic VPA therapy for psychiatric disorders admitted to the hospital with a combination of hepatotoxicities and acute kidney injury–associated rhabdomyolysis. In both cases, home VPA therapy was continued during hospitalization. Consequently, the female patient deceased and the male patient survived and discharged with continuation of his chronic VPA therapy. In cases of surviving patients, resumption of maintenance VPA upon discharge should be held and alternative therapy should be considered.

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