PATTERN OF INHERITANCE OF IDIOPATHIC HYPERCALCIURIA IN TWO FAMILIES [PDF]
Idiopathic hypercalciuria is a leading cause of frequency-dysuria syndrome in childhood. Different modes of inheritance have been suggested in this disease. This article presents the occurrence of idiopathic hypercalciuria in all children of two families.
A. Nickavar +1 more
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Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: A case report [PDF]
Background: Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine-leucine-tryptophan (115G-L-W117)
Bottillo, I +5 more
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Idiopathic hypercalciuria is one of the most commonly diagnosed metabolic disorders in paediatric and adult patients with urolithiasis. Increased urinary calcium excretion is defined as >4 mg/kg per day.
Joanna Milart, Katarzyna Jobs, Anna Jung
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The calcilytic agent NPS 2143 rectifies hypocalcemia in a mouse model with an activating calcium-sensing-receptor (CaSR) mutation:relevance to autosomal dominant hypocalcemia type 1 (ADH1) [PDF]
Autosomal dominant hypocalcemia type 1 (ADH1) is caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR) and may lead to symptomatic hypocalcemia, inappropriately low serum parathyroid hormone (PTH) concentrations and ...
Allen M. Spiegel +44 more
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Primary hyperparathyroidism can generate recurrent pancreatitis and secondary diabetes mellitus – A case report [PDF]
Introduction. Acute or recurrent pancreatitis may be a complication of primary hyperparathyroidism and patients with previous episodes of pancreatitis may develop secondary diabetes mellitus. Case report.
Dănciulescu Miulescu, Rucsandra Elena +4 more
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Hydrochlorothiazide reduces urinary calcium excretion in a child with Lowe syndrome. [PDF]
There is a growing recognition that children with Lowe syndrome are at risk of nephrocalcinosis and nephrolithiasis from hypercalciuria. Increased fluid intake and correction of metabolic acidosis have remained the focus for intervention but are not ...
Butani, Lavjay
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Introduction With the advent of better burn wound management protocols, early excision and grafting, increased number of burns patients are surviving and entering the struggle of prolonged rehabilitation.
Sonika Jha +3 more
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A novel model to explain dietary factors affecting hypocalcaemia in dairy cattle [PDF]
Most dairy cows exhibit different degrees of hypocalcaemia around calving because the gestational Ca requirements shift to the disproportionately high Ca requirements of lactation.
Martin-Tereso Lopez, J. +1 more
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Background: Idiopathic hypercalciuria is a group of diseases which can be manifested with urinary symptoms. Its importance is due to high prevalence, recurrent infections, and stone formations which are often asymptomatic.
Maryam Esteghamati +2 more
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Frequency of Metabolic Abnormalities in Pakistani Children With Urinary Lithiasis
ObjectiveTo determine the frequency of various metabolic abnormalities in children with urinary lithiasis. MethodsThis cross-sectional study was conducted at the Armed Forces Institute of Urology, Rawalpindi, from 30 January 2017 to 1 February 2020.
Muhammad Tanveer Sajid, Muhammad Rafiq Zafar, Qurat Ul Ain Mustafa, Rabia Abbas, Sohail Raziq, Khurram Mansoor
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