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1.
Case Rep Endocrinol ; 2020: 8452564, 2020.
Article in English | MEDLINE | ID: mdl-32181025

ABSTRACT

In congenital analbuminemia (CAA), mutations in the albumin gene result in a severe deficiency or absence of plasma albumin. Only about 90 cases have been reported to date, but the specific features of glucose and lipid metabolism in congenital analbuminemia have only been studied in a rat model of analbuminemia. We report the case of a female patient hospitalized for a streptococcal skin infection who showed recurrent hypoglycemia. A diagnosis of CAA was confirmed by mutation analysis and by the detection of a single base variation in the ALB gene. Hypoglycemia was first documented after a fasting period during acute illness. Recurrent hypoglycemia persisted despite good general condition and normal nutrition during antimicrobial therapy with moxifloxacin. Several contributing factors causing this hypoglycemia can be discussed. Individuals with CAA are prone to adverse drug effects caused by changes in drug-protein binding properties. It is unclear if specific changes of glucose and lipid metabolism in CAA constitute a risk factor for hypoglycemia.

2.
Praxis (Bern 1994) ; 109(4): 291-296, 2020.
Article in German | MEDLINE | ID: mdl-32183648

ABSTRACT

Unexpected Postoperative Diagnosis of Parathyroid Carcinoma Abstract. Parathyroid carcinoma is a rare endocrine malignancy. It typically presents itself with similar clinical features as seen in patients with primary hyperparathyroidism caused by a parathyroid adenoma. Due to overlapping clinical manifestations, imaging findings and pathological characteristics, the differentiation between benign and malignant parathyroid disease poses a diagnostic challenge, especially prior to surgery. We report the case of a 67-year-old male who presented with symptomatic hypercalcemia and primary hyperparathyroidism. During resection of the enlarged parathyroid gland, suspicious macroscopic features were noticed and the histopathology finding confirmed the malignancy. Parathyroid carcinoma is rarely diagnosed preoperatively, which is mainly due to the lack of distinctive symptoms or morphological features suggesting a malignant disease. As parathyroid carcinoma often has a genetic background, knowledge of mutation status and family history is of high relevance. Surgery with complete resection of the parathyroid carcinoma is the mainstay for a successful treatment and a good prognosis.


Subject(s)
Hypercalcemia , Hyperparathyroidism, Primary , Parathyroid Neoplasms , Aged , Humans , Incidental Findings , Male , Parathyroid Neoplasms/diagnosis
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