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hypercalciuria/seizures
Odkaz je uložen do schránky
Strana 1 z 42 Výsledek
Hypercalciuria and febrile convulsion in children under 5 years old.
Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
UNASSIGNED
The association between hypercalciuria and febrile convulsion is controversial. The present study aimed to investigate the statistical association between hypercalciuria and childhood febrile convulsions.
UNASSIGNED
Overall, 160 children aged 6 months to 5 years, including 80 children
Hypercalciuria in children with febrile convulsions.
Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
BACKGROUND
The purpose of the present study was to investigate whether idiopathic hypercalciuria may be implicated in the pathogenesis of febrile convulsions.
METHODS
We studied 38 children (22 boys) with febrile convulsions (mean (+/- SD) age 3.25 +/- 1.09 years) and 45 healthy children (28 boys)
Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation.
Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive syndrome that affects the tight junction proteins claudin-16 and claudin-19 in the thick ascending limb. In patients with claudin-19 mutations, additional symptoms such as visual impairment and other
Hypomagnesaemia-hypercalciuria-nephrocalcinosis: a report of nine cases and a review.
Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
BACKGROUND
The cardinal characteristics of primary hypomagnesaemia-hypercalciuria-nephrocalcinosis include renal magnesium wasting, marked hypercalciuria, renal stones, nephrocalcinosis, a tendency towards chronic renal insufficiency and sometimes even ocular abnormalities or hearing
[Familial hypomagnesemia, hypercalciuria with nephrocalcinosis syndrome: report of a case].
Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
Familial hypomagnesemia and hypercalciuria with nephrocalcinosis is a rare autosomal recessive disease characterized by renal calcium and magnesium wasting, evolving in the progressive decrease of renal function, eventually requiring kidney transplant. Clinical findings include urinary infection,
Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures.
Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
Hypophosphatasia (HPP) is a rare metabolic disease with the hallmark finding of deficient serum tissue nonspecific alkaline phosphatase (TNSALP) activity. TNSALP is primarily known for its role in mineralization; hence, HPP is characterized by defective mineralization of bone and/or teeth. TNSALP is
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder that is frequently associated with progressive renal failure. The primary defect is related to impaired tubular reabsorption of magnesium (Mg) and calcium (Ca) in the thick
A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges.
Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
Autosomal dominant hypocalcaemia with hypercalciuria (ADHH) is an intriguing syndrome, in which activating mutations of the calcium sensing receptor (CaSR) have recently been recognised. We describe a kindred with seven affected individuals across three generations, including patients affected in
Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.
Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
Pyridoxine-responsive seizures (PRS) and the role of pyridoxine (PN, vitamin B(6)) in hypophosphatasia (HPP) are incompletely understood. Typically, PRS and HPP are rare, independent, metabolic disorders. In PRS, seizures resist standard anticonvulsants apart from PN, yet have a good prognosis. In
Hypomagnesemia and nephrocalcinosis in a patient with two heterozygous mutations in the CLDN16 gene.
Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
We report the case of a 20-year-old male Caucasian patient with diagnosed nephrocalcinosis and a medical history of seizures and recurrent urinary tract infections. Laboratory investigations revealed clinical and biochemical abnormalities characteristic of familial hypomagnesemia with hypercalciuria
Impact of intercurrent illness on calcium homeostasis in children with hypoparathyroidism: a case series.
Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
BACKGROUND
Hypoparathyroidism is characterised by hypocalcaemia, and standard management is with an active vitamin D analogue and adequate oral calcium intake (dietary and/or supplements). Little is described in the literature about the impact of intercurrent illnesses on calcium homeostasis in
[The clinical characteristics of 128 childhood- and adolescent-onset hypoparathyroidism in Peking Union Medical College Hospital: a retrospective analysis].
Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
Objective: To study the clinical characteristics of childhood- and adolescent- onset hypoparathyroidism. Methods: The clinical data of 128 hypoparathyroidism patients with onset before the age of 18 years were collected and analyzed retrospectively. Results: The predominant features of the
Hypoparathyroidism in children: a study of eight cases.
Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
BACKGROUND
Hypoparathyroidism is a rare pediatric endocrine disease, which is caused by low circulating levels of PTH or insensitivity to its action in the target tissues.
OBJECTIVE
To report the clinical and biochemical characteristics and theoutcome of 8 patients with
[Clinical characteristics of adult-onset primary hypoparathyroidism: a retrospective analysis of 200 cases].
Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
Objective: To study the clinical characteristics of primary hypoparathyroidism in adults. Methods: The clinical data of 200 cases with adult-onset primary hypoparathyroidism in Peking Union Medical College Hospital during December 1987 to December 2015 were collected and analyzed retrospectively.
Intractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report.
Články mohou překládat pouze registrovaní uživatelé
Přihlášení Registrace
Calcium-sensing receptor gain-of-function mutations are known to cause autosomal dominant hypocalcemia and independently an epilepsy syndrome. We report the unique case of a child with both intractable generalized epilepsy and a chronic abnormality in calcium homeostasis due to a calcium-sensing
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