scholarly journals The Importance of Interpreting Urine Calcium:Creatinine Ratio in PHPT Within Ethnic Context

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A226-A227
Author(s):  
Mariana Abdel-Malek ◽  
Shamaila Zaman ◽  
George Tharakan ◽  
Edouard G Mills ◽  
Adam John Buckley ◽  
...  
Keyword(s):  
Vitamin D ◽  
Primary Hyperparathyroidism ◽  
Age Groups ◽  
Underlying Mechanism ◽  
Organ Damage ◽  
Urinary Calcium ◽  
Renal Ultrasound ◽  
Calcium Excretion ◽  
Hydroxyvitamin D ◽  
Definitive Evidence

Abstract A 56-year-old Afro-Caribbean lady was found to have incidental hypercalcaemia on routine GP investigations. Tiredness was the only elicitable hypercalcaemic symptom and aside from early menopause at age 40, she had no significant past medical or family history. Examination was unremarkable. Blood results showed a raised adjusted calcium 2.68mmol/L (2.2–2.6), normal phosphate 1.06mmol/L (0.80–1.50), raised parathyroid hormone (PTH) 14.1pmol/L (1.6–7.2) and low 25-hydroxyvitamin D 28.1nmol/L (70–150). She had osteopaenia of the femora and left radius on DEXA scan but no nephrocalcinosis on renal ultrasound. On initial investigation, her urinary calcium output was low at 1.55mmol/day resulting in a 24h calcium:creatinine ratio (UCCR) of 0.0065. Although suggestive of Familial Hypocalciuric Hypercalcaemia (FHH), her notable Vitamin D deficiency was considered to contribute to the observed hypocalciuria. After Vitamin D repletion, a repeat UCCR improved to 0.012, however, remained in the indeterminate range. No known pathogenic variant was identified on genetic analysis for FHH. Her PTH and Calcium levels remained persistently high within 9.7–17.1pmol/L and 2.65-2.82mmol/L respectively, suggestive of Primary Hyperparathyroidism (PHPT) given the end organ damage and negative genetic studies. Based on her symptom of fatigue, osteopaenia at a young age and hypercalcaemia, localisation studies were arranged which showed no definitive evidence of a parathyroid adenoma and explorative surgery was planned. The negative genetic testing, PTH level 17.1pmol/L, osteopaenia, low-normal magnesium and phosphate level collectively support a diagnosis of PHPT in this case, despite a low UCCR which however is observed in some PHPT patients. Indeed, a lower UCCR ratio has been reported in the healthy Afro-Carribean population across all age groups, as well as in Afro-Carribean patients with PHPT [1]. The underlying mechanism for this is yet to be determined but may be due to increased renal sensitivity to PTH or altered activity of the tubular calcium reabsorptive pathways. One can further speculate regarding an evolutionary reason behind a protective homeostatic system favouring renal calcium reabsorption over excretion in this frequently vitamin D deficient population. Clinical practice relies heavily on the use of UCCR in aiding the biochemical differentiation of PHPT and FHH. However, as this case highlights, its use can be misleading in Afro-Carribean patients and therefore should be interpreted within an ethnic context. References: Taha W., Singh N., Flack J. M., Abou-Samra A. B. Low urine calcium excretion in African American patients with Primary Hyperparathyroidism. Endocr Pract. 2011; 17: 867–872

scholarly journals Vitamin D Repletion in Patients with Primary Hyperparathyroidism and Coexistent Vitamin D Insufficiency

2005 ◽  
Vol 90 (4) ◽  
pp. 2122-2126 ◽  
Author(s):  
Andrew Grey ◽  
Jenny Lucas ◽  
Anne Horne ◽  
Greg Gamble ◽  
James S. Davidson ◽  
...  
Keyword(s):  
Vitamin D ◽  
Primary Hyperparathyroidism ◽  
Serum Calcium ◽  
Serum Alkaline Phosphatase ◽  
Vitamin D Insufficiency ◽  
Urinary Calcium ◽  
Urinary Calcium Excretion ◽  
Total Serum ◽  
Calcium Excretion ◽  
Intact Pth

Abstract Vitamin D insufficiency is common in patients with primary hyperparathyroidism (PHPT) and may be associated with more severe and progressive disease. Uncertainty exists, however, as to whether repletion of vitamin D should be undertaken in patients with PHPT. Here we report the effects of vitamin D repletion on biochemical outcomes over 1 yr in a group of 21 patients with mild PHPT [serum calcium <12 mg/dl (3 mmol/liter)] and coexistent vitamin D insufficiency [serum 25 hydroxyvitamin D [25(OH)D] <20 μg/liter (50 nmol/liter)]. In response to vitamin D repletion to a serum 25(OH)D level greater than 20 μg/liter (50 nmol/liter), mean levels of serum calcium and phosphate did not change, and serum calcium did not exceed 12 mg/dl (3 mmol/liter) in any patient. Levels of intact PTH fell by 24% at 6 months (P < 0.01) and 26% at 12 months (P < 0.01). There was an inverse relationship between the change in serum 25(OH)D and that in intact PTH (r = −0.43, P = 0.056). At 12 months, total serum alkaline phosphatase was significantly lower, and urine N-telopeptides tended to be lower than baseline values (P = 0.02 and 0.13, respectively). In two patients, 24-h urinary calcium excretion rose to exceed 400 mg/d, but the group mean 24-h urinary calcium excretion did not change. These preliminary data suggest that vitamin D repletion in patients with PHPT does not exacerbate hypercalcemia and may decrease levels of PTH and bone turnover. Some patients with PHPT may experience an increase in urinary calcium excretion after vitamin D repletion.

Surgery for hyperparathyroidism

2018 ◽  
pp. 519-526
Author(s):  
Abdullah Jibawi ◽  
Mohamed Baguneid ◽  
Arnab Bhowmick
Keyword(s):  
Parathyroid Hormone ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Gland ◽  
Adult Population ◽  
Renal Stones ◽  
Organ Damage ◽  
Urinary Calcium ◽  
Calcium Excretion ◽  
Biochemical Tests ◽  
Asymptomatic Patients

Hyperparathyroidism (HPT) is abnormal excessive production of parathyroid hormone (PTH) from the parathyroid gland(s), often with resultant hypercalcaemia. HPT affects 1% of adult population. Incidence increases after the age of 55. Over 80% of primary hyperparathyroidism (PHP) cases in Western countries are found incidentally by routine biochemical tests or on investigation of aetiology of resultant end-organ damage (osteoporosis and renal stones). Diagnosis can be established by demonstrating persistent hypercalcaemia (or serum calcium at the high normal levels) in the presence of elevated (or inappropriately normal) PTH concentrations and elevated urinary calcium excretion. Surgical resection is the treatment of choice for all symptomatic and asymptomatic patients with overactive parathyroid gland who are fit for surgery.

Familial hypocalciuric hypercalcaemia: observations on vitamin D metabolism and parathyroid function

1983 ◽  
Vol 104 (2) ◽  
pp. 210-215 ◽  
Author(s):  
M. Davies ◽  
P. H. Adams ◽  
J. L. Berry ◽  
G. A. Lumb ◽  
P. S. Klimiuk ◽  
...  
Keyword(s):  
Vitamin D ◽  
Serum Concentration ◽  
Primary Hyperparathyroidism ◽  
Calcium Excretion ◽  
Renal Tubules ◽  
Vitamin D Metabolites ◽  
Vitamin D Metabolism ◽  
Hydroxyvitamin D ◽  
25 Hydroxyvitamin D ◽  
Renal Tubular

Abstract. Serum vitamin D metabolites, the renal tubular maximum reabsorptive rate for phosphate (TMP/GFR) nephrogenic cyclic AMP (NcAMPI, and CaE (urinary calcium excretion per litre of glomerular filtrate) were measured in 14 adults with familial hypocalciuric hypercalcaemia (FHH). The findings were compared with analyses in 14 patients with surgically proven primary hyperparathyroidism matched for serum calcium, creatinine clearance and vitamin D status (assessed by serum concentrations of 25 hydroxyvitamin D). Vitamin D metabolites were also measured in 16 normocalcaemic relatives of patients with FHH. The serum concentration of 24, 25 dihydroxycholecalciferol was appropriate for the prevailing 25 hydroxyvitamin D and no difference was found between groups. The serum concentration of 1, 25 dihydroxycholecalciferol was significantly greater in primary hyperparathyroidism (P < 0.0005) compared with patients with FHH and their normocalcaemic relatives. TMP/GFR was reduced in both primary hyperparathyroidism (0.53 ± 0.12 mmol/l GF, mean ± sem) and FHH (0.86 ±0.14 mmol/l GF). Patients with primary hyperparathyroidism showed an increase in NcAMP output in the urine (38.5 ± 16 mmol/l GF) which was significantly greater (P < 0.0001) than the normal NcAMP (13.5 ± 9.2 nmol/l GF) found in FHH. CaE was low in FHH indicating increased renal tubular reabsorption of calcium. It is concluded that there is no abnormality of vitamin D metabolism in FHH comparable with the changes observed in primary hyperparathyroidism. It is suggested that the biochemical abnormalities in FHH cannot be explained solely upon an increased sensitivity of the renal tubules to the effects of endogenous parathyroid hormone.

scholarly journals Combined vitamin D and calcium supplementation in vitamin D inadequate patients with urolithiasis: Impact on hypercalciuria and de novo stone formation

2015 ◽  
Vol 9 (11-12) ◽  
pp. 403 ◽  
Author(s):  
Charles Hesswani ◽  
Yasser A Noureldin ◽  
Mohamed A Elkoushy ◽  
Sero Andonian
Keyword(s):  
Vitamin D ◽  
De Novo ◽  
Stone Formation ◽  
Calcium Supplementation ◽  
Urinary Calcium ◽  
Urinary Calcium Excretion ◽  
Calcium Excretion ◽  
Hydroxyvitamin D ◽  
History Of ◽  
25 Hydroxyvitamin D

<p><strong>ABSTRACT </strong></p><p><strong>Introduction</strong>: We examined the effect of combined vitamin D and calcium supplementation (VDCS) on urinary calcium excretion and de novo stone formation in vitamin D inadequate (VDI) urolithiasis patients.</p><p><strong>Methods</strong>: We retrospectively reviewed the data of VDI patients (serum 25-hydroxyvitamin D&lt;75 nmol/L) followed at a tertiary stone centre between September 2009 and December 2014. VDI patients with history of urolithiasis, who were placed on VDCS for abnormal bone mineral density or hyperoxaliuria, were included. Hypercalciuric patients and patients on thiazide diuretics were excluded. Metabolic stone workup and two 24-hour urine collections were performed before and after VDCS.</p><p><strong> Results</strong>: In total, we inculded 34 patients, with a mean age of 54.8 years and a mean body mass index of 25.7 kg/m2. After VDCS, there was a significant increase in the mean serum 25-hydroxyvitamin D (52.0 vs. 66.4 nmol/L, p&lt;0.001) and the mean urinary calcium excretion (3.80 vs. 5.64 mmol/d, p&lt;0.001). Eight (23.5%) patients developed de novo hypercalciuria. After a median follow-up of 39 (range: 7-60) months, 50% of hypercalciuric patients developed stones compared with 11.5% of non-hypercalciuric patients (p=0.038).</p><p><strong>Conclusion</strong>: This study showed a significant effect of combined VDCS on mean urinary calcium excretion, de novo hypercalciuria, and stone development in VDI patients with history of urolithiasis. Therefore, VDI urolithiasis patients receiving VDCS are advised to have monitoring with 24-hour urine collections and imaging studies. Although small, the sample size is good enough to validate the statistical outcomes. Prospective studies are needed to confirm these results.</p>

scholarly journals Implementation Strategies for Improving Vitamin D Status and Increasing Vitamin D Intake in the UK: Current Controversies and Future Perspectives. Proceedings of the 2nd Rank Prize Funds Forum on Vitamin D

2021 ◽  
pp. 1-60
Author(s):  
J.L. Buttriss ◽  
S.A. Lanham-New ◽  
S. Steenson ◽  
L. Levy ◽  
G.E. Swan ◽  
...  
Keyword(s):  
Vitamin D ◽  
Age Groups ◽  
Implementation Strategies ◽  
Vitamin D Status ◽  
Cost Information ◽  
Hydroxyvitamin D ◽  
Minority Ethnic Groups ◽  
Modelling Studies ◽  
Clinical Consequences ◽  
The Uk

Abstract A multi-disciplinary expert group met to discuss vitamin D deficiency in the UK, and strategies for improving population intakes and status. Changes to UK Government advice since the 1st Rank Forum on Vitamin D (2009) were discussed, including rationale for setting a RNI (10µg/day;400IU/day) for adults and children (4+ years). Current UK data show inadequate intakes among all age groups, and high prevalence of low vitamin D status among specific groups (e.g. pregnant women and adolescent males/females). Evidence of widespread deficiency within some minority ethnic groups, resulting in nutritional rickets (particularly among Black and South Asian infants), raised particular concern. It is too early to establish whether population vitamin D status has altered since Government recommendations changed in 2016. Vitamin D food fortification was discussed as a potential strategy to increase population intakes. Data from dose-response and dietary modelling studies indicate dairy products, bread, hens’ eggs and some meats as potential fortification vehicles. Vitamin D3 appears more effective than vitamin D2 for raising serum 25-hydroxyvitamin D concentration, which has implications for choice of fortificant. Other considerations for successful fortification strategies include: i) need for ‘real-world’ cost information for use in modelling work; ii) supportive food legislation; iii) improved consumer and health professional understanding of vitamin D’s importance; iv) clinical consequences of inadequate vitamin D status; v) consistent communication of Government advice across health/social care professions, and via the food industry. These areas urgently require further research to enable universal improvement in vitamin D intakes and status in the UK population.

scholarly journals Vitamin D and Risk for Vitamin A Intoxication in an 18-Month-Old Boy

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Valentina Talarico ◽  
Massimo Barreca ◽  
Rossella Galiano ◽  
Maria Concetta Galati ◽  
Giuseppe Raiola
Keyword(s):  
Vitamin D ◽  
Vitamin A ◽  
High Serum ◽  
Renal Ultrasound ◽  
Once Daily ◽  
Hydroxyvitamin D ◽  
Vitamin D Intoxication ◽  
Intravenous Hydration ◽  
25 Hydroxyvitamin D ◽  
Low Levels

An 18-month-old boy presented with abdominal pain, vomiting, diarrhea, and poor appetite for 6 days. He had been given a multivitamin preparation once daily, containing 50.000 IU of vitamin D and 10.000 IU of vitamin A for a wide anterior fontanelle for about three months. He presented with hypercalcemia, low levels of parathyroid hormone (PTH), and very high serum 25-hydroxyvitamin D (25-OHD) levels. Renal ultrasound showed nephrocalcinosis. He did not have sign or symptom of vitamin A intoxication. Patient was successfully treated with intravenous hydration, furosemide, and prednisolone. With treatment, serum calcium returned rapidly to the normal range and serum 25-OHD levels were reduced progressively. In conclusion the diagnosis of vitamin D deficiency rickets without checking 25-OHD levels may cause redundant treatment that leads to vitamin D intoxication (VDI).

scholarly journals Primary Hyperparathyroidism in Homozygous Sickle Cell Patients: A Hemolysis-Mediated Hypocalciuric Hypercalcemia Phenotype?

2021 ◽  
Vol 10 (21) ◽  
pp. 5179
Author(s):  
Edmat Akhtar Khan ◽  
Lynda Cheddani ◽  
Camille Saint-Jacques ◽  
Rosa Vargas-Poussou ◽  
Vincent Frochot ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Sickle Cell ◽  
Fractional Excretion ◽  
Urinary Calcium ◽  
High Rate ◽  
Calcium Handling ◽  
Control Group ◽  
Calcium Excretion ◽  
Calcium Reabsorption ◽  
Chronic Hemolysis

Primary hyperparathyroidism (pHPT) has been reported to have a higher prevalence in sickle cell disease (SCD) patients, including a high rate of recurrence following surgery. However, most patients are asymptomatic at the time of diagnosis, with surprisingly infrequent hypercalciuria, raising the issue of renal calcium handling in SCD patients. We conducted a retrospective study including (1) 64 hypercalcemic pHPT non-SCD patients; (2) 177 SCD patients, divided into two groups of 12 hypercalcemic pHPT and 165 non-pHPT; (3) eight patients with a diagnosis of familial hypocalciuric hypercalcemia (FHH). Demographic and biological parameters at the time of diagnosis were collected and compared between the different groups. Determinants of fasting fractional excretion of calcium (FeCa2+) were also analyzed in non-pHPT SCD patients. Compared to non-SCD pHPT patients, our data show a similar ionized calcium and PTH concentration, with a lower plasmatic calcitriol concentration and a lower daily urinary calcium excretion in pHPT SCD patients (p < 0.0001 in both cases). Fasting FeCa2+ is also surprisingly low in pHPT SCD patients, and thus inadequate to be considered hypercalcemia, recalling the FHH phenotype. FeCa2+ is also low in the non-pHPT SCD control group, and negatively associated with PTH and hemolytic biomarkers such as LDH and low hemoglobin. Our data suggest that the pHPT biochemical phenotype in SCD patients resembles the FHH phenotype, and the fasting FeCa2+ association with chronic hemolysis biomarkers strengthens the view of a potential pharmacological link between hemolytic by-products and calcium reabsorption, potentially through a decreased calcium-sensing receptor (CaSR) activity.

scholarly journals A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism

2020 ◽  
Vol 2020 ◽  
Author(s):  
Satyanarayana V Sagi ◽  
Hareesh Joshi ◽  
Jamie Trotman ◽  
Terence Elsey ◽  
Ashwini Swamy ◽  
...  
Keyword(s):  
Parathyroid Hormone ◽  
Primary Hyperparathyroidism ◽  
Organ Damage ◽  
Urinary Calcium ◽  
Interesting Case ◽  
List Type ◽  
Loss Of Function ◽  
Clearance Ratio ◽  
Hormone Levels ◽  
Severe Hypercalcaemia

Summary Familial hypocalciuric hypercalcaemia (FHH) is a dominantly inherited, lifelong benign disorder characterised by asymptomatic hypercalcaemia, relative hypocalciuria and variable parathyroid hormone levels. It is caused by loss-of-function pathogenic variants in the calcium-sensing receptor (CASR) gene. Primary hyperparathyroidism (PHPT) is characterised by variable hypercalcaemia in the context of non-suppressed parathyroid hormone levels. Unlike patients with FHH, patients with severe hypercalcaemia due to PHPT are usually symptomatic and are at risk of end-organ damage affecting the kidneys, bone, heart, gastrointestinal system and CNS. Surgical resection of the offending parathyroid gland(s) is the treatment of choice for PHPT, while dietary adjustment and reassurance is the mainstay of management for patients with FHH. The occurrence of both FHH and primary hyperparathyroidism (PHPT) in the same patient has been described. We report an interesting case of FHH due to a novel CASR variant confirmed in a mother and her two daughters and the possible coexistence of FHH and PHPT in the mother, highlighting the challenges involved in diagnosis and management. Learning points: Familial hypocalciuric hypercalcaemia (FHH) and primary hyperparathyroidism (PHPT) can coexist in the same patient. Urinary calcium creatinine clearance ratio can play a role in distinguishing between PHPT and FHH. Genetic testing should be considered in managing patients with PHPT and FHH where the benefit may extend to the wider family. Family segregation studies can play an important role in the reclassification of variants of uncertain significance. Parathyroidectomy has no benefit in patients with FHH and therefore, it is important to exclude FHH prior to considering surgery. For patients with coexisting FHH and PHPT, parathyroidectomy will reduce the risk of complications from the severe hypercalcaemia associated with PHPT.

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