The Parathyroid and Disorders of Calcium and Bone Metabolism

Allgrove, Jeremy; Frcp,; Consultant, Frcpch

doi:10.1002/9781444316728.ch16

Cited by 3 publications

(1 citation statement)

References 119 publications

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“…6 Kalsitriol yerine yüksek dozlarda alfakalsidiol (150-200 ng/kg/gün) tedavisi de kullanılabilmektedir. 12 Nutrisyonel riketste kan kalsiyum düzeyi 6-10 günde düzelirken, parathormonun düzelmesi 1-2 ay, radyolojik düzelme 3-6 ayı bulmaktadır. 13 Her iki olguda klinik ve laboratuvar bulgularının normale dönmesi nutrisyonel riketse göre daha uzun zaman almıştır.…”

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Vitamin D Dependent Rickets Type I: Two Cases Report

Ulusoy¹,

Demir²,

Altıncık³

et al. 2012

Turkiye Klinikleri J Med Sci

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Vitamin D Dependent Rickets Type I: Two Cases Report

Ulusoy¹,

Demir²,

Altıncık³

et al. 2012

Turkiye Klinikleri J Med Sci

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A Randomized Controlled Trial on Safety and Efficacy of Single Intramuscular versus Staggered Oral Dose of 600 000IU Vitamin D in Treatment of Nutritional Rickets

Mondal

Seth

Marwaha

et al. 2014

Journal of Tropical Pediatrics

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Mutations in Pseudohypoparathyroidism 1a and Pseudopseudohypoparathyroidism in Ethnic Chinese

Hwang

Hsiao

et al. 2014

PLoS ONE

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An inactivating mutation in the GNAS gene causes either pseudohypoparathyroidism 1a (PHP1A) when it is maternally inherited or pseudopseudohypoparathyroidism (PPHP) when it is paternally inherited. We investigated clinical manifestations and mutations of the GNAS gene in ethnic Chinese patients with PHP1A or PPHP. Seven patients from 5 families including 4 girls and 2 boys with PHP1A and 1 girl with PPHP were studied. All PHP1A patients had mental retardation. They were treated with calcitriol and CaCO3 with regular monitoring of serum Ca levels, urinary Ca/Cr ratios, and renal sonography. Among them, 5 patients also had primary hypothyroidism suggesting TSH resistance. One female patient had a renal stone which was treated with extracorporeal shockwave lithotripsy. She had an increased urinary Ca/Cr ratio of 0.481 mg/mg when the stone was detected. We detected mutations using PCR and sequencing as well as analysed a splice acceptor site mutation using RT-PCR, sequencing, and minigene construct. We detected 5 mutations: c.85C>T (Q29*), c.103C>T (Q35*), c.840-2A>G (R280Sfs*21), c.1027_1028delGA (D343*), and c.1174G>A (E392K). Mutations c.840-2A>G and c.1027_1028delGA were novel. The c.840-2A>G mutation at the splice acceptor site of intron 10 caused retention of intron 10 in the minigene construct but skipping of exon 11 in the peripheral blood cells. The latter was the most probable mechanism which caused a frameshift, changing Arg to Ser at residue 280 and invoking a premature termination of translation at codon 300 (R280Sfs*21). Five GNAS mutations in ethnic Chinese with PHP1A and PPHP were reported. Two of them were novel. Mutation c.840-2A>G destroyed a spice acceptor site and caused exon skipping. Regular monitoring and adjustment in therapy are mandatory to achieve optimal therapeutic effects and avoid nephrolithiasis in patients with PHP1A.

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The Parathyroid and Disorders of Calcium and Bone Metabolism

Cited by 3 publications

References 119 publications

Vitamin D Dependent Rickets Type I: Two Cases Report

Vitamin D Dependent Rickets Type I: Two Cases Report

A Randomized Controlled Trial on Safety and Efficacy of Single Intramuscular versus Staggered Oral Dose of 600 000IU Vitamin D in Treatment of Nutritional Rickets

Mutations in Pseudohypoparathyroidism 1a and Pseudopseudohypoparathyroidism in Ethnic Chinese

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