Progression of PTH-resistance in autosomal dominant pseudohypoparathyroidism type Ib due to maternal STX16 deletions

2021 ◽  
Author(s):  
Zentaro Kiuchi ◽  
Monica Reyes ◽  
Patrick Hanna ◽  
Anu Sharma ◽  
Terry DeClue ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Genetic Defect ◽  
Total Serum ◽  
Female Carrier ◽  
Normal Limits ◽  
Total Serum Calcium ◽  
Laboratory Results ◽  
Pre Treatment ◽  
Pth Resistance ◽  
Female Carriers

Abstract Context Maternally inherited STX16 deletions that cause loss-of-methylation at GNAS exon A/B and thereby reduce Gsα expression are the most frequent cause of autosomal dominant pseudohypoparathyroidism type 1B (AD-PHP1B). Early identification of these disease-causing variants in the children of affected and unaffected female carriers would prompt treatment with calcium and calcitriol, once PTH levels increase, thereby preventing hypocalcemia and associated complications. Objectives Determine when PTH and calcium abnormalities develop after birth if a STX16 deletion is inherited maternally. Patients and Methods Forty-four children of affected (n=7) or unaffected (n=7) females with a STX16 deletion were investigated for the presence of these variants. If a deletion was identified, measurement of PTH, calcium, phosphate, and TSH was advised. Results The STX16 deletion that causes AD-PHP1B was identified in 25 children. Pre-treatment laboratory results were available for 19 of those cases. Elevated PTH levels were detected by 2 years of age and these were progressively higher if laboratory testing was first performed after establishing the genetic defect later in life. Total serum calcium levels remained within normal limits until about five years of age. TSH levels showed no consistent rise over time. Conclusion Establishing whether a STX16 deletion is inherited from a female carrier of a disease-causing variant rapidly establishes the diagnosis of AD-PHP1B. Several years before overt hypocalcemia developed, PTH levels increased thereby establishing the onset of PTH-resistance. Our findings provide diagnostic guidance and when treatment with calcium and calcitriol should be considered, in order to prevent hypocalcemia and associated sequelae.

scholarly journals Effect of long period treatment with erythropoiesis stimulating agents on clinically and laboratory parameters in hemodialysis autosomal dominant polycystic kidney disease patients

2017 ◽  
Vol 25 (4) ◽  
pp. 375-382
Author(s):  
Olga Hilda Orăsan ◽  
Ljubomir Petrov ◽  
Laura Urian ◽  
Angela Cozma ◽  
George Ciulei ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Kidney Disease ◽  
Autosomal Dominant ◽  
Treatment Time ◽  
Serum Phosphate ◽  
Total Serum ◽  
Polycystic Kidney ◽  
Total Serum Calcium ◽  
Weekly Treatment ◽  
Autosomal Dominant Polycystic Kidney

Abstract Introduction. The study of dialysis patients not needing erythropoiesis-stimulating agents (ESA) for long periods of time has gained interest lately. The aim of this study was to compare laboratory and clinical parameters in hemodialysis patients with autosomal dominant polycystic kidney disease (ADPKD) treated or not with ESA. Methods. Forty-six hemodialysis ADPKD patients were studied for 8 months and they were divided into: group 1- 29 patients who received ESA during the study period and group 2- 17 patients with no ESA treatment. The following parameters were determined: weekly treatment time, body mass index (BMI), pre-session diastolic blood pressure (DBP), pre-session systolic blood pressure (SBP), blood volume processed (BVD), interdialytic body weight gain (IBWG), spKt/V -K/DOQI formula (Kt/V), urea distribution volume (UDV), hemoglobin (Hb), ferritin, transferrin saturation (TSAT), serum phosphate, total serum calcium, normalized protein catabolic ratio (nPCR), albumin, and intact parathormone (PTH). Results. Patients not requiring ESA were more likely to be men, had higher Hb, albumin, total serum calcium levels, IBWG, UDV, BVP, and weekly treatment time. They had lower ferritin, TSAT, SBP. There was no difference regarding DBP, BMI, serum phosphate, PTH, Kt/V, and nPCR. Conclusion. Hemodialysis ADPKD patients not treated with ESA seem to be better nourished, with a slightly better SBP control, with longer dialysis time and increased Hb (despite lower iron loading markers), compared to hemodialysis ADPKD patients treated with ESA.

Serum ionized calcium and corrected total calcium in borderline hyperparathyroidism.

1978 ◽  
Vol 24 (11) ◽  
pp. 1962-1965 ◽  
Author(s):  
L Larsson ◽  
S Ohman
Keyword(s):  
Serum Calcium ◽  
Reference Range ◽  
Reference Group ◽  
Ionized Calcium ◽  
Total Serum ◽  
Albumin Concentration ◽  
Serum Calcium Concentration ◽  
Normal Limits ◽  
Total Serum Calcium ◽  
Serum Ionized Calcium

Abstract We studied 25 borderline-hyperparathyroidism patients whose total serum calcium concentration was within normal limits (reference range: 2.25--2.75 mmol/liter) but whose concentrations of serum ionized calcium were above normal (reference range: 1.03--1.23 mmol/liter). Their hyperparathyroidism was histopathologically verified. To compare the discriminating value of corrected serum calcium with ionized calcium, we studied the serum calcium and albumin concentrations in a reference group of 2098 patients. After patients from endocrine and dialysis departments were excluded from the reference group, we obtained the range (mean +/- 2 SD) 2.05--2.71 mmol/liter for uncorrected serum calcium and 2.11--2.63 mmol/liter for corrected serum calcium. The correction factor for calcium on albumin was 20 mumol/g. Even with this limit for corrected serum calcium, 13 of 25 borderline hyperparathyroidism patients had values that fell within the reference range. We conclude that correcting total serum calcium values for serum albumin concentration improves discrimination of borderline hyperparathyroid patients, but that measurement of ionized calcium in serum discriminates better.

Effect of cimetidine on serum carboxyl and aminoterminal fragments of parathyroid hormone in chronic uraemic patients

1984 ◽  
Vol 105 (1) ◽  
pp. 66-71
Author(s):  
P. Dupont ◽  
B. Carlier ◽  
M. Marchetti ◽  
J. Ducobu ◽  
C. Van der Donckt
Keyword(s):  
Parathyroid Hormone ◽  
Secondary Hyperparathyroidism ◽  
Normal Limit ◽  
Elevated Serum ◽  
Serum Levels ◽  
Total Serum ◽  
Mean Values ◽  
Total Serum Calcium ◽  
The Mean ◽  
Pre Treatment

Abstract. The effect of cimetidine on abnormally elevated serum levels of parathyroid hormone was studied in 21 patients with secondary hyperparathyroidism due to chronic renal failure, receiving regular dialysis treatment. The concentrations of carboxyl (-COOH) and aminoterminal (-NH2) fragments of circulating immunoreactive parathyroid hormone (iPTH) were determined before and after 2 months af treatment with cimetidine 400 mg/day. All patients had, on admission, raised levels of either hormonal fragment. The mean pre-treatment value was 17.2 mU/ml for -COOH terminus (upper normal limit 6.5 mU/ml) and 5.7 mU/ml for -NH2 terminus (upper normal limit 1.9 mU/ml). At the end of cimetidine treatment the mean values were 19.9 and 5.7 mU/ml respectively for the two forms of circulating iPTH. No changes in total serum calcium, phosphate or alkaline phosphatase activity were recorded during the study. These results do not indicate any lowering effect of cimetidine on serum iPTH in chronic uraemic patients with secondary hyperparathyroidism.

The Genetic Defect of Type I von Willebrand Disease “Vicenza” Is Linked to the von Willebrand Factor Gene

1993 ◽  
Vol 69 (02) ◽  
pp. 173-176 ◽  
Author(s):  
Anna M Randi ◽  
Elisabetta Sacchi ◽  
Gian Carlo Castaman ◽  
Francesco Rodeghiero ◽  
Pier Mannuccio Mannucci
Keyword(s):  
Von Willebrand Factor ◽  
Autosomal Dominant ◽  
Genetic Defect ◽  
Von Willebrand Disease ◽  
Type I ◽  
Bleeding Tendency ◽  
Factor Gene ◽  
Low Levels ◽  
Von Willebrand ◽  
Willebrand Factor

SummaryType I von Willebrand disease (vWD) Vicenza is a rare variant with autosomal dominant transmission, characterized by the presence of supranormal von Willebrand factor (vWF) multimers in plasma, similar to those normally found in endothelial cells and megakaryocytes. The patients have very low levels of plasma vWF contrasting with a mild bleeding tendency. The pathophysiology of this subtype is still unknown. The presence of supranormal multimers in the patients’ plasma could be due to a mutation in the vWF molecule which affects post-translational processing, or to a defect in the cells’ processing machinery, independent of the vWF molecule. In order to determne if type I vWD Vicenza is linked to the vWF gene, we studied six polymorphic systems identified within the vWF gene in two apparently unrelated families with type I vWD Vicenza. The results of this study indicate a linkage between vWF gene and the type I vWD Vicenza trait. This strongly suggests that type I vWD Vicenza is due to a mutation in one of the vWF alleles, which results in an abnormal vWF molecule that is processed to a lesser extent than normal vWF.

The Reference Intervals Used in Pediatric Medical Analysis Laboratories to Interpret the Results Analysis for Total Serum Calcium

2017 ◽  
Vol 68 (2) ◽  
pp. 243-245
Author(s):  
Elisabeta Antonescu ◽  
Maria Totan ◽  
Gheorghe Cornel Boitor ◽  
Julianna Szakacs ◽  
Sinziana Calina Silisteanu ◽  
...  
Keyword(s):  
Serum Calcium ◽  
Colorimetric Method ◽  
Age Groups ◽  
Essential Element ◽  
Reference Intervals ◽  
Total Serum ◽  
Electronic Archive ◽  
Total Serum Calcium ◽  
Analysis Laboratory ◽  
Medical Analysis

Medical analysis laboratory must establish its own reference intervals depending on the facilities they are working with, the working substances and protocols. These reference intervals must be obtained depending on age groups in order to accurately interpret the results of the analyzes performed. The study is a retrospective one using 3217 data from the electronic archive of the S.C. Vladutiu&Garabedian S.R.L. Clinic in Medias. Total serum calcium was determined by the colorimetric method on the Konelab analyzer. Processing of the collected data was done using the Hoffmann method, considering 5% up to 95% of the values in the database, the values being randomly selected. For comparison, data from the literature was used. In children under 1 year old, it was not possible to calculate the reference intervals since data was insufficient. In the other age groups, reference intervals obtained in the current study were similar to the studied literature. Reference intervals established for calcium can provide important guidance for the reasonable supplementation of this essential element in children.

scholarly journals Association of dietary calcium intake, total and ionized serum calcium levels with preeclampsia in Ethiopia

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Rahel D. Gebreyohannes ◽  
Ahmed Abdella ◽  
Wondimu Ayele ◽  
Ahizechukwu C. Eke
Keyword(s):  
Serum Calcium ◽  
Calcium Intake ◽  
Calcium Level ◽  
Serum Calcium Level ◽  
Dietary Calcium ◽  
Ionized Calcium ◽  
Dietary Calcium Intake ◽  
Total Serum ◽  
Total Serum Calcium ◽  
Total Serum Calcium Level

Abstract Background Preeclampsia is a well-known cause of maternal mortality and morbidity in Ethiopia. The exact pathophysiology has not been fully understood. Calcium and magnesium deficiencies have been given emphasis to play roles in the pathophysiology. Although evidence is abundant, they are equivocal. The study aimed to see the association of dietary calcium intake, serum total calcium level and ionized calcium level with preeclampsia. It also evaluated the association between dietary calcium intake and serum calcium levels. Materials and methods An unmatched case–control study was conducted in Gandhi Memorial, Tikur Anbessa, and Zewditu Memorial Hospitals, all in Addis Ababa, between October to December, 2019. Cases were 42 women with preeclampsia and controls were 42 normotensive women. The medical and obstetric history was gathered using a structured questionnaire and the dietary calcium intake information using a 24-h dietary recall. The serum levels of total serum calcium and ionized (free) calcium were measured using an inductively coupled mass spectrophotometer. Bivariate and multivariate logistic regression and Pearson correlation test were utilized during data analysis. Results In comparison with controls, women with preeclampsia had lower mean (± 1SD) levels of ionized calcium level (1.1 mmol/l ± 0.11), total serum calcium level (1.99 mmol/l ± 0.35) and lower median (IQR) dietary calcium intake (704 mg/24 h,458–1183). The odds of having preeclampsia was almost eight times greater in those participants with low serum ionized calcium level (OR 7.5, 95% CI 2.388–23.608) and three times higher in those with low total serum calcium level (OR 3.0, 95% CI 1.024–9.370). Low dietary calcium intake also showed statistically significant association with preeclampsia (OR 3.4, 95% CI 1.092 -10.723). Serum ionized calcium level and total serum calcium level showed positive correlation of moderate strength (p = 0.004, r = 0.307), but no correlation was found between dietary calcium intake with both forms of serum calcium levels. Conclusion This study showed significant association between low dietary calcium intake and low serum calcium levels with preeclampsia, hence this can be used as a supportive local evidence for the current context-specific recommendation of calcium supplementation in societies with low-dietary calcium consumption in an attempt to prevent preeclampsia, therefore implementation study should be considered in Ethiopia to look for the feasibility of routine supplementation.

Fluoride Ingestion in Children: A Review of 87 Cases

PEDIATRICS ◽  
1991 ◽  
Vol 88 (5) ◽  
pp. 907-912
Author(s):  
W. Lynn Augenstein ◽  
David G. Spoerke ◽  
Ken W. Kulig ◽  
Alan H. Hall ◽  
Priscilla K. Hall ◽  
...  
Keyword(s):  
Serum Calcium ◽  
Fatal Case ◽  
Gastrointestinal Symptoms ◽  
Rocky Mountain ◽  
Total Serum ◽  
Sufficient Information ◽  
Poison Center ◽  
Normal Children ◽  
Fluoride Treatment ◽  
Total Serum Calcium

All cases of fluoride ingestion in children younger than 12 years old reported to the Rocky Mountain Poison Center between January 1 and December 31, 1986, were retrospectively reviewed. Eighty-seven cases were identified. Eighty-four cases involved accidental ingestion of dental fluoride products in the home (tablets, drops, rinses) in children 8 months to 6 years old. Two older children (8 and 9 years old) became symptomatic after fluoride treatment by a dentist. A 13-month-old child died after ingesting an unknown amount of sodium fluoride insecticide, the only insecticide exposure in our series. Postmortem total serum calcium value was 4.8 mg/dL (normal 8.8 to 10.3). No other patients had serious symptoms or sequelae. Twenty-six (30%) of 87 became symptomatic, with gastrointestinal symptoms (nausea, vomiting, diarrhea, abdominal pain) in 25 patients and drowsiness in 1. Only 3 patients became symptomatic later than 1 hour after ingestion. Analysis of data from 70 cases with sufficient information revealed that as the amount of fluoride ingested increased, the percentage of patients with symptoms increased. Not including the fatal case, 6 patients had serum calcium levels measured, and all were normal. Children who ingested up to 8.4 mg/kg of elemental fluoride in dental products had mild and self-limited symptoms, mostly gastrointestinal.

scholarly journals HYPOCALCEMIA AFTER PARATHYROIDECTOMY

2020 ◽  
Vol 23 (2) ◽  
pp. 75-79
Author(s):  
L. P. Kotelnikova ◽  
G. Yu. Mokina ◽  
N. G. Polyakova
Keyword(s):  
Parathyroid Hormone ◽  
Calcium Level ◽  
Clinical Symptoms ◽  
Clinical Signs ◽  
Total Serum ◽  
Primary Group ◽  
Total Calcium ◽  
Baseline Serum ◽  
Median Baseline ◽  
Total Serum Calcium

The aim of the study was to estimate the frequency and timing of hypocalcemia after surgical treatment for primary, secondary and tertiary hyperparathyroidism. Materials and methods. 21 patients were operated for hyperparathyroidism, 15 - for primary (group 1), 6 - for secondary and tertiary (group 2). In I group the median baseline level of total serum calcium was 3.06 mmol/l, phosphorus0.9 mmol/l, and parathyroid hormone360 pmol/l. In II group all patients were on program dialysis for end-stage chronic kidney failure for at least five years. The median baseline serum total calcium level was 2.29 mmol/l, phosphorus2.64 mmol/l, and parathyroid hormone-1822 pmol/l. Results. A day after removal of the parathyroid adenoma (1 group) the level of calcium and phosphorus was normalized, the content of parathyroid hormone (median 21.4 pmol/l) significantly decreased. In one case (6.7%) on the fifth day there were clinical signs of hypocalcemia and the level of calcium decreased to 1.86 mmol/l. All patients of the second group underwent subtotal parathyroidectomy. After a day the level of parathyroid hormone significantly decreased (median227 pmol/l). The phosphorus content has returned to normal. The calcium level in all cases exceeded 2 mmol/l. On day 4-5 the total calcium content decreased and ranged from 1.14 mmol/l to 2.04 mmol/l. Four patients (66,7%) showed clinical signs of hypocalcemia. It was found that the development of hypocalcemia has a positive correlation of average value with the level of parathyroid hormone, phosphorus and negative with the content of calcium before surgery. Conclusion. The decrease in the level of total calcium with the development of clinical symptoms occurs on 4-5 days after surgery for primary hyperparathyroidism in 6.7% and for secondary or tertiary - in 66.7%. Risk factors for hypocalcemia are the baseline low level of calcium and high of parathyroid hormone, phosphorus.

scholarly journals Hypocalcaemia, Hypoglycaemia, Macrosomia and Congenital Cryptorchidism in a Male Offspring of a Mother with Overweight and Gestational Diabetes Mellitus

2016 ◽  
Vol 23 (4) ◽  
pp. 353-359
Author(s):  
Alphonsus N. Onyiriuka ◽  
Sandra O. Edorhe
Keyword(s):  
Diabetes Mellitus ◽  
Gestational Diabetes ◽  
Gestational Diabetes Mellitus ◽  
Male Infant ◽  
Total Serum ◽  
Left Testis ◽  
Family History Of Diabetes ◽  
Total Serum Calcium ◽  
The Right ◽  
Maternal Overweight

AbstractThis paper reports a case of a male infant born to a 32-year-old multiparous mother with overweight (BMI 28.5kg/m2) and gestational diabetes mellitus (GDM). The mother had fasting hyperglycaemia (range 5.7- 6.0mmol/L) noted at 24 weeks of pregnancy and was managed with diet alone. There is no family history of diabetes mellitus and the mother did not have pre-eclampsia. Physical examination of the infant revealed macrosomia (birthweight, 4600g) and bilateral congenital cryptorchidism. The baby suffered severe hypoglycaemia (blood glucose 1.7mmol/L) and hypocalcaemia (total serum calcium 1.03mmol/L), manifesting with seizures. He was successfully managed with 10% dextrose water and calcium gluconate infusion, using standard protocol. His karyotype is 46 XY. The patient was discharged from admission at the age of 10 days and was referred to the paediatric endocrinologist at the tertiary hospital. By 8 weeks of age, the right testis was noticed to have descended into the right scrotum. At the age of 3 months, the left testis was still not palpable either in the inguinal canal or the scrotal sac. The patient was lost to follow up. Conclusion: Diet-treated maternal overweight in association with GDM could potentially increase the risk for hypocalcaemia, hypoglycaemia, macrosomia and congenital cryptorchidism in the offspring, highlighting the need for physicians to assess for the presence of these morbidities in such infants.

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