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Annals of Medicine and Surgery (2012) Jun 2024Bartter syndrome is an autosomal recessive salt reabsorption disorder that results in decreased extracellular fluid volume with low/normal blood pressure.
BACKGROUND
Bartter syndrome is an autosomal recessive salt reabsorption disorder that results in decreased extracellular fluid volume with low/normal blood pressure.
CASE PRESENTATION
A 17-year-old boy with polydipsia, polyuria, weakness in the lower limbs, and ataxic gait. His Laboratory test shows hypokalemia; hypochloremia, hypomagnesemia and metabolic alkalosis. The authors' patient was managed by fluid and electrolyte replacement, which is essential in emergency management.
CONCLUSION
Bartter syndrome is difficult to treat, and currently, there is no complete cure. The overall prognosis depends on the extent of receptor dysfunction, and despite these facts, most patients can live a normal life if they strictly follow their treatment plan.
PubMed: 38846905
DOI: 10.1097/MS9.0000000000001994 -
European Journal of Case Reports in... 2024Euglycemic diabetic ketoacidosis (euDKA) is a rare but severe metabolic complication of diabetes mellitus characterised by elevated anion gap metabolic acidosis despite...
The Significance of Precise Diabetes Diagnosis: A Case of Euglycemic Diabetic Ketoacidosis Induced by the Introduction of Empagliflozin with Simultaneous Reduction of Insulin Dosage.
UNLABELLED
Euglycemic diabetic ketoacidosis (euDKA) is a rare but severe metabolic complication of diabetes mellitus characterised by elevated anion gap metabolic acidosis despite normal or mildly elevated blood glucose levels. Sodium-glucose cotransporter 2 inhibitors (SGLT2i) have emerged as effective antidiabetic medications, yet their use is associated with an increased risk of euDKA, especially when coupled with insulin dose reduction. We present the case of a 50-year-old male with a 20-year history of diabetes mellitus, initially managed with insulin and metformin, who developed euDKA following the introduction of empagliflozin and sitagliptin alongside a reduction in insulin therapy. Despite normoglycaemia the patient exhibited symptoms of ketoacidosis, including chronic fatigue, polydipsia, and polyuria. Diagnostic workup revealed metabolic acidosis, elevated inflammatory markers, acute kidney injury and ketonuria. Subsequent specialised laboratory tests confirmed type 1 diabetes mellitus (T1DM) with the presence of anti-glutamic acid decarboxylase (anti-GAD) antibodies and the absence of C-peptide secretion. Management involved fluid therapy, intravenous insulin and glucose administration. This case underscores the diagnostic challenges of euDKA and emphasises the importance of differentiating between T1DM and T2DM, as management strategies vary significantly. Patient education on insulin therapy and injection techniques is crucial to prevent complications such as improper insulin delivery and dose reduction, which can precipitate euDKA. In conclusion, clinicians should be vigilant for euDKA in patients on SGLT2 inhibitors, particularly when insulin dose reduction is involved. Comprehensive patient education and accurate differentiation between diabetes types are essential for timely diagnosis and optimal management, thereby reducing the risk of severe complications.
LEARNING POINTS
The reduction in insulin doses combined with the introduction of an SGLT2 inhibitor in a patient with type 1 diabetes may lead to the development of a dangerous health complication known as euglycemic diabetic ketoacidosis.In cases of diagnostic uncertainty regarding the differentiation of diabetes types, measuring the levels of C-peptide and anti-GAD antibodies can be helpful.Abnormal glycaemic results in a patient using insulin may result from improper administration. During follow-up visits, it is worthwhile to check the subcutaneous tissue for lipodystrophy and also remind the patient about the necessity of rotating insulin injection sites.
PubMed: 38846667
DOI: 10.12890/2024_004567 -
TouchREVIEWS in Endocrinology Apr 2024Pituitary infiltration by systemic lymphoma is an exceedingly rare occurrence. Given its high mortality rate, it is crucial to recognize its clinical, biochemical and...
Pituitary infiltration by systemic lymphoma is an exceedingly rare occurrence. Given its high mortality rate, it is crucial to recognize its clinical, biochemical and radiological features in order to provide timely intervention. We present the case of a 26-year-old male with a history of human immunodeficiency virus (HIV) infection who presented to the hospital with severe anemia, persistent fever, weight loss and diarrhea over the previous 4 months. Physical examination revealed a compromised general condition, fever, pallor, hepatomegaly and lymphadenopathy. Cervical lymph node biopsy confirmed Burkitt lymphoma (BL). During hospitalization, the patient developed polyuria, polydipsia, hypernatremia, fluid-resistant hypotension and hypoglycaemia. Corticosteroid therapy was initiated due to suspected adrenal insufficiency, resulting in clinical improvement but exacerbation of polyuria and hypernatremia. Plasma and urinary osmolarity confirmed arginine vasopressin deficiency, and assessment of anterior pituitary reserve revealed hypopituitarism, necessitating hormonal replacement therapy. Sellar magnetic resonance imaging with contrast revealed pituitary infiltration. The patient subsequently developed septic shock and died. BL accounts for approximately 10% of the cases of pituitary infiltration associated with lymphoma. Clinical presentation is heterogeneous, with panhypopituitarism often serving as the initial manifestation. Sellar magnetic resonance imaging plays a pivotal role in the differential diagnosis. Management typically entails chemotherapy, immunotherapy, radiation and hormonal replacement therapy. This case report describes a patient with BL and HIV infection who developed panhypopituitarism due to pituitary infiltration, an exceedingly rare presentation considered a medical emergency.
PubMed: 38812670
DOI: 10.17925/EE.2024.20.1.11 -
Cureus Apr 2024Arginine vasopressin deficiency (AVP-D), formerly known as central diabetes insipidus, is a disease characterized by polyuria, polydipsia, and hypernatremia. The...
Arginine vasopressin deficiency (AVP-D), formerly known as central diabetes insipidus, is a disease characterized by polyuria, polydipsia, and hypernatremia. The concomitant diagnosis of acute myeloid leukemia (AML) is an underappreciated event that requires prompt recognition and treatment by practicing nephrologists and hematologists. This report highlights this importance by describing the case of a 39-year-old patient newly diagnosed with AML who developed severe hypernatremia. The role of diagnostic testing through desmopressin (DDAVP) challenge and copeptin testing to confirm the diagnosis of AVP-D in this context and the use of DDVAP for treatment are discussed. Practicing nephrologists and primary care providers taking care of patients with similar symptoms will benefit from understanding the pathophysiology of AVP-D, its relationship with AML, and the prognosis in this patient cohort.
PubMed: 38807832
DOI: 10.7759/cureus.59186 -
A Rare Association of Autoimmune Hypophysitis With Seronegative Rheumatoid Arthritis: A Case Report.Cureus Apr 2024Autoimmune hypophysitis (AH) is an uncommon condition where there is inflammation of the pituitary gland which leads to hormonal imbalances. It is often associated with...
Autoimmune hypophysitis (AH) is an uncommon condition where there is inflammation of the pituitary gland which leads to hormonal imbalances. It is often associated with autoimmune diseases; however, a case is yet to be reported with an association of AH with seronegative rheumatoid arthritis (RA). We present a case of a 45-year-old female who complained of polyuria/polydipsia and rapid weight gain. An MRI of the head revealed enlargement of the pituitary gland, concerning for AH. Although she was initially treated for diabetes insipidus, she began reporting new complaints of joint pains and morning stiffness. She was clinically diagnosed with seronegative RA and improved with a trial of hydroxychloroquine. A repeat MRI showed improvement in the abnormal pituitary findings, and the patient was closely monitored with a multidisciplinary approach. Diagnosing and managing patients with AH are topics that are still being explored and researched as it is a relatively rare pathology. Consequently, we found the need to discuss the relationship of AH with seronegative RA and delve into the various diagnostic and treatment approaches.
PubMed: 38807817
DOI: 10.7759/cureus.59167 -
Andes Pediatrica : Revista Chilena de... Apr 2024Hypertriglyceridemia (HTG)-induced acute pancreatitis (AP) secondary to insulin deficiency following the onset of type 1 diabetes mellitus (T1DM) is a rare but serious...
UNLABELLED
Hypertriglyceridemia (HTG)-induced acute pancreatitis (AP) secondary to insulin deficiency following the onset of type 1 diabetes mellitus (T1DM) is a rare but serious complication in children.
OBJECTIVE
To describe the diagnosis and treatment of severe HTG and to emphasize the need for timely diagnosis of T1DM.
CLINICAL CASE
A 15-year-old female adolescent with a history of overweight presented with a two-weeks history of fever, anorexia, and diffuse abdominal pain. Laboratory tests revealed triglycerides of 17,580 mg/dL, lipase of 723 U/L, and blood glucose of 200 mg/dL. An abdominal CT scan showed an enlarged and edematous pancreas. She was hospitalized with a diagnosis of AP and severe HTG, which progressed to acute necro-hemorrhagic pancreatitis. Treatment included continuous intravenous insulin infusion until triglyceride levels decreased. Upon discontinuation of insulin, fasting hyperglycemia (206 mg/dL) and metabolic acidosis recurred, therefore DM was suspected. Upon targeted questioning, a history of polydipsia, polyuria, and weight loss during the last 3 months stood out. Glycated hemoglobin was markedly elevated (14.7%). Insulin therapy was optimized, achieving stabilization of laboratory parameters after 15 days of treatment and complete anatomical resolution of pancreatic involvement at one year of follow-up.
CONCLUSIONS
The presence of severe HTG in pediatrics compels us to consider its secondary causes, such as the onset of T1DM. It is crucial to improve the ability to diagnose T1DM early, as it may present with infrequent and high-risk presentations for the patient.
Topics: Humans; Adolescent; Diabetes Mellitus, Type 1; Female; Hypertriglyceridemia; Pancreatitis; Acute Disease; Insulin; Severity of Illness Index; Hypoglycemic Agents
PubMed: 38801367
DOI: 10.32641/andespediatr.v95i2.4967 -
AACE Clinical Case Reports 2024
PubMed: 38799043
DOI: 10.1016/j.aace.2024.02.002 -
CEN Case Reports May 2024Colistin is an effective antibiotic utilized for the treatment of Gram-negative bacterial infections with coverage against a broad spectrum of bacteria. Despite the...
Colistin is an effective antibiotic utilized for the treatment of Gram-negative bacterial infections with coverage against a broad spectrum of bacteria. Despite the broad antibacterial coverage, this antibiotic can have serious complications such as acute kidney injury. Colistin also can have a toxic effect on the loop of Henle, causing tubulopathy, electrolyte imbalances, and the occurrence of Bartter-like syndrome (BLS) which is characterized by magnesium and calcium disturbances, polyuria, and metabolic alkalosis. We here report a 32-year-old male with a history of multiple trauma due to an accident that received colistin therapy for Pseudomonas isolation from wound culture on the 5th day of hospitalization. Polyuria, hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalcemia were developed on the first week of colistin administration. The patient received colistin until the 21st day of hospitalization. Serum calcium and magnesium levels became normal 1 day after stopping colistin, while urine volume and metabolic alkalosis resolved 6 days after colistin discontinuing. Therefore, it is crucial to adjust the dose of colistin to minimize its toxicity.
PubMed: 38771479
DOI: 10.1007/s13730-024-00891-1 -
The American Journal of Case Reports May 2024BACKGROUND Nephrogenic diabetes insipidus (NDI) is a rare renal disorder that can be congenital, and is caused by mutations in either aquaporin 2 or arginine vasopressin...
A Rare Case of Congenital Nephrogenic Diabetes Insipidus Associated with Aquaporin 2 Gene Mutation and Subsequent Acute Lymphoblastic Leukemia: Impact of Steroids on Kidney Function.
BACKGROUND Nephrogenic diabetes insipidus (NDI) is a rare renal disorder that can be congenital, and is caused by mutations in either aquaporin 2 or arginine vasopressin receptor 2, or it can be secondary to kidney disease or electrolyte imbalance. The clinical signs of NDI include polyuria, compensatory polydipsia, hypernatremic dehydration, and growth retardation without prompt treatment. In this report, we present the case of a patient with congenital NDI who was later diagnosed with acute lymphoblastic leukemia (ALL). With dexamethasone treatment, he had uncontrolled polyuria and polydipsia. Our aim was to concentrate on the impact of steroids on the kidneys. CASE REPORT Our patient presented at the age of 9 months with signs of severe dehydration that were associated with polyuria. His laboratory examinations revealed hypernatremia and decreased urine osmolality. He was diagnosed with NDI and his exome sequence revealed a homozygous mutation at the nucleotide position AQP2 NM_000486.6: c.374C>T (p.Thr125Met). He was treated with hydrochlorothiazide and amiloride. Then, at age 19 months, he presented with gastroenteritis and a complete blood count (CBC) showed high white blood cell count and blast cells. He was diagnosed with (ALL) and began receiving chemotherapy, during which again developed polydipsia and polyuria, which could not be controlled with an increased dosage of hydrochlorothiazide. CONCLUSIONS We report a rare case of NDI caused by a missense mutation in the aquaporin 2 gene. One year later, the child developed ALL, and treatment with dexamethasone led to an uncompensated state of polydipsia and polyuria.
Topics: Humans; Male; Diabetes Insipidus, Nephrogenic; Aquaporin 2; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Infant; Dexamethasone; Mutation; Glucocorticoids
PubMed: 38769718
DOI: 10.12659/AJCR.943597 -
BMC Endocrine Disorders May 2024Although vaccination against coronavirus disease (COVID-19) has several side effects, hypopituitarism due to hypophysitis has rarely been reported.
BACKGROUND
Although vaccination against coronavirus disease (COVID-19) has several side effects, hypopituitarism due to hypophysitis has rarely been reported.
CASE PRESENTATION
An 83-year-old healthy woman, who had received her fourth COVID-19 vaccine dose 2 days before admission, presented to the emergency department with difficulty moving. On examination, impaired consciousness (Glasgow Coma Scale: 14) and fever were observed. Computed tomography and magnetic resonance imaging of the head revealed swelling from the sella turcica to the suprasellar region. Her morning serum cortisol level was low (4.4 μg/dL) and adrenocorticotropic hormone level was normal (21.6 pg/mL). Central hypothyroidism was also suspected (thyroid stimulating hormone, 0.46 μIU/mL; free triiodothyronine, 1.86 pg/mL; free thyroxine, 0.48 ng/dL). Secondary adrenocortical insufficiency, growth hormone deficiency, delayed gonadotropin response, and elevated prolactin levels were also observed. After administration of prednisolone and levothyroxine, her consciousness recovered. On the 7th day of admission, the patient developed polyuria, and arginine vasopressin deficiency was diagnosed using a hypertonic saline test. On the 15th day, the posterior pituitary gland showed a loss of high signal intensity and the polyuria resolved spontaneously. On the 134th day, the corticotropin-releasing hormone loading test showed a normal response; however, the thyrotropin-releasing hormone stimulation test showed a low response. The patient's disease course was stable with continued thyroid and adrenal corticosteroid supplementation.
CONCLUSIONS
Herein, we report a rare case of anterior hypopituitarism and arginine vasopressin deficiency secondary to hypophysitis following COVID-19 vaccination.
Topics: Humans; Female; Hypopituitarism; Aged, 80 and over; COVID-19 Vaccines; COVID-19; Hypophysitis; Arginine Vasopressin; Adrenal Insufficiency; Vaccination; SARS-CoV-2
PubMed: 38769570
DOI: 10.1186/s12902-024-01582-9