scholarly journals Isolated idiopathic hypoparathyroidism that developed in adulthood: a case report

2021 ◽  
Vol 12 (3) ◽  
pp. 68-75
Author(s):  
G. E. Runova ◽  
A. V. Oderiy ◽  
I. V. Glinkina ◽  
Yu. P. Sych ◽  
S. E. Moshenina ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Variants ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Urinary Calcium ◽  
Parathyroid Glands ◽  
Calcium Excretion ◽  
Genetic Syndromes ◽  
Active Metabolites ◽  
Surgical Interventions

Hypoparathyroidism is a rare endocrine disease. In most cases in adult patients, the cause of hypoparathyroidism is damage or removal of parathyroid glands during surgical interventions on the neck; other causes are rarely observed.Case report. A 52-year-old man with episodes of seizures, intense muscle pain, progressing for 7 years and resistance to treatment with myorelaxant, anxiolytics and nonsteroidal anti-inflammatory drugs was examined and hypocalcemia associated with low parathyroid hormone and excessive urinary calcium excretion was found. Ultrasound examination didn't reveal any changes in parathyroid glands. The patient was diagnosed with idiopathic hypoparathyroidism. Treatment with calcium supplements and active metabolites of vitamin D led to an improvement in clinical symptoms and laboratory parameters.Discussion. Hypoparathyroidism as part of several genetic syndromes was excluded due to the late- onset of the disease and the absence of concomitant diseases. Ultrasound of the parathyroid glands made it possible to rule out metastasis and storage diseases. It is recommended to perform genetic testing of the chromosomes 22 and 10 to exclude rare variants of syndromic hypoparathyroidism with the late-onset in the form of isolated hypocalcemia.

scholarly journals Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

2021 ◽  
Vol 22 (7) ◽  
pp. 3625
Author(s):  
Filomena Napolitano ◽  
Giorgia Bruno ◽  
Chiara Terracciano ◽  
Giuseppina Franzese ◽  
Nicole Piera Palomba ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Rare Variants ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Respiratory Muscles ◽  
Autosomal Recessive Disorder ◽  
Compound Heterozygous ◽  
Enzyme Replacement ◽  
Whole Exome ◽  
Clinical Pictures

Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase. The late-onset form of Pompe disease (LOPD) is characterized by a slowly progressing proximal muscle weakness, often involving respiratory muscles. In LOPD, the levels of GAA enzyme activity and the severity of the clinical pictures may be highly variable among individuals, even in those who harbour the same combination of GAA mutations. The result is an unpredictable genotype–phenotype correlation. The purpose of this study was to identify the genetic factors responsible for the progression, severity and drug response in LOPD. We report here on a detailed clinical, morphological and genetic study, including a whole exome sequencing (WES) analysis of 11 adult LOPD siblings belonging to two Italian families carrying compound heterozygous GAA mutations. We disclosed a heterogeneous pattern of myopathic impairment, associated, among others, with cardiac defects, intracranial vessels abnormality, osteoporosis, vitamin D deficiency, obesity and adverse response to enzyme replacement therapy (ERT). We identified deleterious variants in the genes involved in autophagy, immunity and bone metabolism, which contributed to the severity of the clinical symptoms observed in the LOPD patients. This study emphasizes the multisystem nature of LOPD and highlights the polygenic nature of the complex phenotype disclosed in these patients.

P0237COMPARISONS OF CLINICAL FEATURES IN GITELMAN SYNDROME PATIENTS WITH DIFFERENT URINARY CALCIUM EXCRETIONS

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Lei Zhang ◽  
Bingbin Zhao ◽  
Xiaoyan Peng ◽  
Ying Wang ◽  
Limeng Chen
Keyword(s):  
Clinical Features ◽  
Clinical Symptoms ◽  
Urinary Calcium ◽  
Gitelman Syndrome ◽  
Urinary Calcium Excretion ◽  
P Value ◽  
Calcium Excretion ◽  
College Hospital ◽  
Female Ratio ◽  
Gene Testing

Abstract Background and Aims Hypocalciuria is considered typical in Gitelman syndrome (GS). However, a few GS cases diagnosed by gene testing presented as normocalciuria have been reported in recent years. Our study is to observe the clinical features in GS patients with different urinary calcium excretions, and investigate the value of urinary calcium excretion in the clinical classification for GS. Method GS cases from the National Rare Diseases Registry System of China (NRSC) (2016-2018) with SLCl2A3 gene screened in Peking Union Medical College Hospital were collected. The features of urinary calcium excretion were analyzed, and the phenotypes of patients with hypocalciuria were compared to those with normocalciuria. Hydrochlorothiazide (HCT) test was performed and the maximal increasement of chloride excretion fraction (△FECl) was calculated to evaluate the extent of NCC dysfunction. Results A total of 83 genetically proven GS patients was included, with the mean age at diagnosis of 31.0±13.0 years, and the male/female ratio was 1.4:1. Among them, 53 (63.9%) patients had hypocalciuria. The ratio of urinary calcium/creatine was significantly lower in patients with hypocalciuria (0.08±0.06mmol/mmol) compared to those with normocalciuria (0.47±0.28mmol/mmol), with a P value of <0.001. Age, gender, estimated glomerular filtration rate, blood pressure, alkalosis, and serum and urinary electrolytes including potassium, magnesium, natrium, chloride, and phosphorus were all comparable between patients with hypocalciuria and normocalciuria. Based on a standardized symptom questionnaire, fatigue (52.8% vs. 76.7%, P=0.03) and polyuria (9.4% vs. 30.0%, P=0.02) were less frequently reported in hypocalciuria patients, while all the other clinical symptoms were comparable. Sixteen patients in each group underwent HCT test, and the △FECl value was comparable between patients with hypocalciuria and normocalciuria (median, 0.54% vs. 0.83%, P=0.88), both of which indicated a blunt response to HCT (<2.86% according to our previous study). Conclusion The results show that 63.9% of the GS patients in this study had hypocalciuria. There is no definite relationship between urinary calcium excretion, phenotype and the extent of NCC dysfunction.

scholarly journals Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation

2016 ◽  
Vol 175 (3) ◽  
pp. 211-218 ◽  
Author(s):  
Sirpa Tenhola ◽  
Raimo Voutilainen ◽  
Monica Reyes ◽  
Sanna Toiviainen-Salo ◽  
Harald Jüppner ◽  
...  
Keyword(s):  
Short Stature ◽  
Autosomal Dominant ◽  
Clinical Symptoms ◽  
Urinary Calcium ◽  
Calcium Excretion ◽  
Clinical Genetic ◽  
Activating Mutations ◽  
Intracranial Calcifications ◽  
Healthy Family ◽  
Autosomal Dominant Hypocalcemia

Objective Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia and inappropriately low PTH concentrations. ADH type 1 is caused by activating mutations in the calcium-sensing receptor (CASR), a G-protein-coupled receptor signaling through α11 (Gα11) and αq (Gαq) subunits. Heterozygous activating mutations in GNA11, the gene encoding Gα11, underlie ADH type 2. This study describes disease characteristics in a family with ADH caused by a gain-of-function mutation in GNA11. Design A three-generation family with seven members (3 adults, 4 children) presenting with ADH. Methods Biochemical parameters of calcium metabolism, clinical, genetic and brain imaging findings were analyzed. Results Sanger sequencing revealed a heterozygous GNA11 missense mutation (c.1018G>A, p.V340M) in all seven hypocalcemic subjects, but not in the healthy family members (n=4). The adult patients showed clinical symptoms of hypocalcemia, while the children were asymptomatic. Plasma ionized calcium ranged from 0.95 to 1.14mmol/L, yet plasma PTH was inappropriately low for the degree of hypocalcemia. Serum 25OHD was normal. Despite hypocalcemia 1,25(OH)2D and urinary calcium excretion were inappropriately in the reference range. None of the patients had nephrocalcinosis. Two adults and one child (of the two MRI scanned children) had distinct intracranial calcifications. All affected subjects had short stature (height s.d. scores ranging from −3.4 to −2.3 vs −0.5 in the unaffected children). Conclusions The identified GNA11 mutation results in biochemical abnormalities typical for ADH. Additional features, including short stature and early intracranial calcifications, cosegregated with the mutation. These findings may indicate a wider role for Gα11 signaling besides calcium regulation.

scholarly journals Differential diagnosis of convulsions in the structure of dissociative (conversion motor) disorder and chronic postoperative hypoparathyroidism: case report and literature review

2021 ◽  
Vol 13 (3) ◽  
pp. 82-87
Author(s):  
Yu. A. Krupinova ◽  
T. A. Zelenkova-Zakharchuk ◽  
E. V. Kovaleva ◽  
Sh. T. Ashurbekova ◽  
A. K. Eremkina ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Standard Treatment ◽  
Clinical Symptoms ◽  
Mineral Metabolism ◽  
Epileptic Seizures ◽  
Motor Disorder ◽  
Active Metabolites ◽  
Psychogenic Nonepileptic Seizures ◽  
Postoperative Hypoparathyroidism

Hypoparathyroidism is a rare disorder of mineral metabolism, characterized by hypocalcemia as a result of the absence or deficiency of parathyroid hormone. The severity of the condition of patients with this disease is associated with both acute episodes of hypocalcemia due to cardiac arrhythmias, laryngo- or bronchospasm, generalized seizures, and manifestations of long-term complications of the disease, such as kidney pathology. In some cases, the normalization of phosphorus-calcium metabolism due to standard treatment with active metabolites / analogues of vitamin D and calcium salts does not lead to a reduction in clinical symptoms, which requires differential diagnosis with other conditions, including such neuropsychiatric disorders as epileptic seizures and their equivalents, syncope, and psychogenic nonepileptic seizures. We present a case report of a woman with convulsions, which developed due to dissociative (conversion motor) disorder, with chronic postoperative hypoparathyroidism, receiving standard treatment and having normo- and hypercalcemia.

Late Onset of Vaccine-associated Measles in an Adult with Severe Clinical Symptoms: A Case Report

2014 ◽  
Vol 127 (4) ◽  
pp. e3-e4 ◽  
Author(s):  
Takako Kurata ◽  
Daiki Kanbayashi ◽  
Hitomi Kinoshita ◽  
Satoru Arai ◽  
Yoko Matsui ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Symptoms ◽  
Late Onset

Surgical treatment of alveolar echinococcosis: a single centre experience and systematic review of the literature

2019 ◽  
Vol 98 (4) ◽  
pp. 167-173
Keyword(s):  
Case Report ◽  
Echinococcus Multilocularis ◽  
Alveolar Echinococcosis ◽  
Lymphatic System ◽  
Surgical Intervention ◽  
Clinical Symptoms ◽  
Safety Margin ◽  
Surgical Removal ◽  
Single Centre Experience ◽  
Therapeutic Procedures

Introduction: Alveolar echinococcosis (AE) is a zoonosis caused by Echinococcus multilocularis. AE is primarily localised in the liver. Echinococcus multilocularis imitates tumour-like behaviour. It can metastasise through blood or lymphatic system to distant organs. Echinococcosis often remains asymptomatic due to its long incubation period and indistinct symptoms. Clinical symptoms are determined by the parasite’s location. Diagnosis of echinococcosis is based on medical history, clinical symptoms, laboratory tests, serology results, imaging methods and final histology findings. Surgical removal of the cyst with a safety margin, followed by chemotherapy is the therapeutic method of choice. Case report: We present a case report of alveolar echinococcosis in a thirty-year-old female patient in whom we surgically removed multiple liver foci of alveolar echinococcosis. The disease recurred after two years and required another surgical intervention. Conclusions: Alveolar echinococcosis is a disease with a high potential for a complete cure provided that it is diagnosed early and that the recommended therapeutic procedures are strictly adhered to.

THE DEPENDENCE OF URINARY CALCIUM AND OTHER ELECTROLYTES ON ADRENAL FUNCTION DURING ACUTE SODIUM DEPLETION AND LOADING

1970 ◽  
Vol 64 (1) ◽  
pp. 65-74 ◽  
Author(s):  
Lars Runeberg ◽  
B.-A. Lamberg ◽  
P. Reissell ◽  
H. Adlercreutz
Keyword(s):  
Sodium Excretion ◽  
Extracellular Volume ◽  
Normal Subjects ◽  
Urinary Calcium ◽  
Calcium Excretion ◽  
Minor Importance ◽  
Sodium Depletion ◽  
Sodium Loading ◽  
Urinary Potassium ◽  
Normal Controls

ABSTRACT The time course of the renal excretion of calcium, magnesium, sodium, and potassium during sodium depletion and the rapid correction of the extracellular volume deficit was studied in normal subjects and in patients with Addison's disease (AD). The decrease in body weight was similar in the two groups, but the haematocrit value increased more in the patients with AD. Sodium depletion suppressed sodium excretion much more efficiently in normal controls than in the AD patients. Calcium excretion was roughly equally depressed in two groups. During sodium loading there was an immediate increase in renal sodium excretion in the patients with AD, whereas the sodium-retaining state generally continued for about one day in the normal controls. Urinary potassium decreased gradually during the first day of sodium loading in the normal controls but not in the AD patients. In the normal subjects calcium excretion remained low during the first day and increased on the second day of sodium loading. In the AD patients there was a gradual increase in urinary calcium during the first day of sodium loading, which did not, however, parallel the changes in urinary sodium content in individual urine samples. Urinary magnesium did not change significantly. It is concluded that the effect of adrenal steroids on renal calcium excretion is of minor importance. They may, however, to some extent induce calcium retention.

Late-onset malignant glaucoma

2020 ◽  
Vol 3 ◽  
pp. 1
Author(s):  
Ramiro José Daud ◽  
Horacio Freile ◽  
Mauricio Freile ◽  
Soledad Mariano
Keyword(s):  
Intraocular Pressure ◽  
Case Report ◽  
Acute Pain ◽  
Late Onset ◽  
Slit Lamp ◽  
Normal Range ◽  
Slit Lamp Examination ◽  
Complete Occlusion ◽  
Malignant Glaucoma ◽  
The Right

A case report on a 49-year-old female with diagnoses of ocular hypertension in her left eye (LE) treated with 250 mg/day acetazolamide for 2 years. During the slit-lamp examination, complete occlusion of both iridocorneal angles was detected. Intraocular pressure (IOP) was 10 and 35 mmHg in the right eye and LE, respectively. Phacotrabeculectomy was performed in the LE. After 1 month of the procedure, the patient developed a slowly progressive miopization from −1 to −3 diopters (D) the following months. Approximately 3 months after surgery, the patient developed an episode of acute pain, athalamia, and IOP 45 mmHg in her LE. Late-onset malignant glaucoma was suspected and the patient was treated with topical hypotensive and cycloplegic agent until a prompt vitrectomy was performed. Deepening of the anterior chamber and restoration of IOP to normal range was obtained after surgery.

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