scholarly journals Hereditary Vitamin-D Dependent Rickets Type II: A Case Report

2021 ◽  
Vol 59 (238) ◽  
Author(s):  
Neela Sunuwar ◽  
Swotantra Gautam ◽  
Anuradha Twayana ◽  
Saroj Adhikari Yadav ◽  
Firoz Anjum ◽  
...  
Keyword(s):  
Vitamin D ◽  
Case Report ◽  
Parathyroid Hormone ◽  
Biochemical Parameters ◽  
Genetic Disorder ◽  
High Dose ◽  
Type Ii ◽  
Radiological Findings ◽  
Oral Calcium ◽  
Subsequent Improvement

Hereditary vitamin D dependent rickets type II is a rare genetic disorder in children characterized by early onset of rickets and deranged biochemical parameters. Low serum calcium level, high alkaline phosphatase, high parathyroid hormone, and high values of 1,25-dihydroxy vitamin D are characteristic biochemical findings. We are reporting a rare case of Vitamin D Dependent Rickets and subsequent improvement after addition of cinacalcet. This is a case report of a 2.5-year-child with Hereditary Vitamin D Dependent Rickets type II receiving cinacalcet as adjunct to oral calcium and calcitriol. Oral cinacalcet (0.25mg/kg/day) was added to the regimen as an adjunct after treatment failure with high dose of oral calcium and calcitriol. A significant improvement in radiological findings and normal homeostasis of calcium, phosphate and parathyroid hormone was achieved after initiation of cinacalcet.

scholarly journals A Prospective Study of Vitamin D Supplement in Thyroidectomy Patients Based on Relative Decline of Parathyroid Hormone

2021 ◽  
Vol 12 ◽  
Author(s):  
Qing Hao ◽  
Yun Qin ◽  
Wanjun Zhao ◽  
Lingyun Zhang ◽  
Han Luo
Keyword(s):  
Vitamin D ◽  
Parathyroid Hormone ◽  
High Risk ◽  
Prospective Study ◽  
Oral Calcium ◽  
Group A ◽  
Relative Decline ◽  
A Prospective Study ◽  
Vitamin D Supplement ◽  
Intravenous Calcium

Background: In postthyroidectomy patients, hypocalcemia is the most common complication to prolong hospital stay and decrease patients’ satisfaction. Based on current evidence, it is recommended to supply vitamin D to patients with high risk of developing hypocalcemia. However, how to stratify the risk of patients remains challenging.Aim: We conducted a prospective study to evaluate the effect of vitamin D supplement (calcitriol) on high-risk hypocalcemia patients based on relative decline of parathyroid hormone (RDP).Method: RDP was calculated by the difference between preoperative and postoperative first-day PTH divided by preoperative PTH and presented as percentage. Patients who underwent total thyroidectomy in addition to bilateral central compartment dissection were enrolled prospectively and were divided into two cohorts: Cohort I: patients with RDP ≤70% and Cohort II: patients with RDP >70%. Patients in Cohort I were then randomly assigned to Group A or B, and patients in Cohort II were randomly assigned to Group C or D. All groups received oral calcium, and patients in Groups B and D also received calcitriol. All patients were followed for one year. In the study, standard procedure dictates that only oral calcium is given to patients whose RDP ≤70% and that oral calcium and calcitriol are given to patients whose RDP >70%. Therefore, Cohort I Group A and Cohort II Group D are controls in this study.Results: The incidence of clinical hypocalcemia in Groups A and D (the controls) was 11.0% (10/91), and 17.6% (16/91) required additional intravenous calcium. Of note, no patients developed permanent hypocalcemia. Furthermore, calcitriol supplement did not have significant impact on clinical outcomes between Group A and B in Cohort I. By contrast, calcitriol supplement distinctly improved clinical outcome by comparing Groups C and D (Cohort II), as marked by clinical hypocalcemia, need of requiring intravenous calcium, and long-termed decreased levels of PTH.Conclusion: Supplying calcitriol based on RDP cutoff of 70% may be a wise practice in thyroidectomy patients, and RDP 70% may be a useful predictor to stratify high-risk patients.

scholarly journals Thecomparisonofserumbiomarkersin patients with osteoarthritisand rheumatoidarthritis

2018 ◽  
Vol 6 (2) ◽  
pp. 1-11
Author(s):  
Almandlawi S G ◽  
Ahmed A S
Keyword(s):  
Rheumatoid Arthritis ◽  
Vitamin D ◽  
Alkaline Phosphatase ◽  
Parathyroid Hormone ◽  
Calcium Phosphate ◽  
Serum Vitamin ◽  
Type Ii Collagen ◽  
Healthy Controls ◽  
Type Ii ◽  
Serum Vitamin D

Introduction: This study aims to assess the status of serum vitamin D, parathyroid hormone, type II collagen, calcium, phosphate,albumin, and alkaline phosphatase in osteoarthritis and rheumatoidarthritis patients and to study their association with rheumatoid arthritis disease activity. Materials and Methods: This prospectivecross-sectional study was conducted at the clinical analysis department, College of Pharmacy, Hawler Medical University in 2017.They study samples were collected at Rizgary Teaching Hospitalduring the period September 2015 to January 2016. A total of(N=156) participants were included: (N=53) patients with rheumatoid arthritis (RA), (N=53) with osteoarthritis (OA), and (N=50)healthy controls. Enzyme Linked Immuno Sorbent Assay kits determined serum vitamin D, parathyroid hormone, and type II collagen; and serum albumin, calcium, phosphate and alkaline phosphatase, were determined by standard colorimetric methods. Resultsand Discussion: Statistically significant higher levels of parathyroid hormone and type II collagen, with lower levels of Vitamin D,were found in the osteoarthritis group than the rheumatoid arthritisgroup and the healthy controls (P=0.007, P<0.001, P= 0.005) respectively. Multiple linear regression showed a statistically significant difference in serum type II collagen as a dependent variable, inpatients suffering from RA or OA compared to the healthy controlgroup; after adjusting for the effect of other independent studyvariables, there was a mean increase of (45.90 nmol/L, P<0.001)in RA patients, and OA patients showed greater levels of type IIcollagen (73.950 nmol/L) than the health control group (P<0.001).Conclusions: Elevated type II collagen levels, in conjunction witha low vitamin D status, may be strong discriminator between osteoarthritis and rheumatoid arthritis patients.

scholarly journals Vitamin D - Dependent Rickets, Type II Case Report

2014 ◽  
Vol 26 (1) ◽  
pp. 68 ◽  
Author(s):  
Mehmedali Azemi ◽  
Majlinda Berisha ◽  
Vlora IsmailiJaha ◽  
Selim Kolgeci ◽  
Rina Hoxha ◽  
...  
Keyword(s):  
Vitamin D ◽  
Case Report ◽  
Type Ii

scholarly journals Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report

2013 ◽  
Vol 2013 ◽  
pp. 1-8
Author(s):  
Priyanka Kant ◽  
Neelkamal Sharda ◽  
Rahul R. Bhowate
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Genetic Disease ◽  
Autosomal Dominant ◽  
Type Ii ◽  
Radiological Findings ◽  
Erlenmeyer Flask ◽  
Radiographic Features ◽  
Autosomal Dominant Osteopetrosis

Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton caused by the absence or malfunction of osteoclasts. Three distinct forms of the disease have been recognized, autosomal dominant osteopetrosis being the most common. Autosomal dominant osteopetrosis exhibits a heterogeneous trait with milder symptoms, often at later childhood or adulthood. The aim of this case report is to present the clinical and radiographic features of a 35-year-old female patient with autosomal dominant osteopetrosis type II who exhibited features of chronic generalised periodontitis, and the radiographs revealed generalised osteosclerosis and hallmark radiographic features of ADO type II, that is, “bone-within-bone appearance” and “Erlenmeyer-flask deformity.”

scholarly journals A rare case of Vitamin D dependent rickets type II: a case report

2019 ◽  
Vol 6 (5) ◽  
pp. 2209
Author(s):  
Raghava Badabagni ◽  
Rambabu Bodduluri ◽  
P. V. Prudhvi Raju
Keyword(s):  
Vitamin D ◽  
Vitamin D3 ◽  
Receptor Gene ◽  
Autosomal Recessive Disorder ◽  
First Year ◽  
High Dose ◽  
Type Ii ◽  
Recommended Treatment ◽  
Physiological Dose ◽  
First Year Of Life

Vitamin D-dependent type II rickets (VDDRII) is a rare autosomal recessive disorder caused by mutation in the vitamin D receptor gene, leading to end-organ resistance to 1,25(OH)2 vitamin D3. It presents with refractory rickets and growth retardation presenting in the first year of life. It is frequently associated with alopecia totalis. Due to target organresistance, its response to vitamin D is poor. The recommended treatment is giving supra physiological dose of 1,25(OH)2 vitamin D3 and a high dose of oral or intravenous calcium. The response of alopecia to treatment is generally poor. We present a 3 ½ year-old male child with VDDR II whose alopecia and rickets partially responded to 1,25(OH)2 vitamin D3.

scholarly journals Pseudohypoparathyroidism as a Cause of Refractory Seizures

2014 ◽  
Vol 34 (2) ◽  
pp. 166-167
Author(s):  
Gurmeet Singh ◽  
Karuna Thapar ◽  
Preeti Malhotra
Keyword(s):  
Vitamin D ◽  
Parathyroid Hormone ◽  
Status Epilepticus ◽  
Serum Level ◽  
Hormone Level ◽  
Genetic Disorder ◽  
Parathyroid Hormone Level ◽  
Refractory Seizures ◽  
Vitamin D Analogue

Pseudohypoparathyroidism is a genetic disorder that is similar to hypoparathyroidism, but which results from the body’s lack of response to parathyroid hormone rather than its decreased production. Serum level of immunoreactive Parathormone are elevated instead. We report a four month old infant in status epilepticus associated with hypocalcemia, hyperphosphatemia and raised parathyroid hormone level. Hypocalcemia was resistant to calcium therapy initially but responded to vitamin D analogue therapy leading to diagnosis of Pseudohypoparathyroidism. DOI: http://dx.doi.org/10.3126/jnps.v34i2.10602 J Nepal Paediatr Soc 2014;34(2):166-167 

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