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polyhydramnios/カリウム

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Increased urinary flow without development of polyhydramnios in response to prolonged hypoxia in the ovine fetus.

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OBJECTIVE In the ovine fetus subjected to 24 hours of hypoxia, urinary flow is normal within a few hours from the onset of hypoxia and there is a maintained inhibition of swallowing. We hypothesized that 4 days of fetal hypoxia would lead to polyhydramnios. METHODS Five late-gestation fetal sheep

[Polyhydramnios, prematurity, dystrophy, polyuria, constipation, nephrocalcinosis and renal tumor: presentation of a classic tubulopathy].

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BACKGROUND A diagnostic workup of a renal mass will rarely lead to the diagnosis of a tubulopathy. We would like to stress the importance of taking a detailed history and of evaluating these findings in the context of the clinical symptoms. METHODS A 3 year old boy with a renal mass, diagnosed due
We report clinical data of a female patient with Bartter's syndrome who was initially diagnosed with idiophatic hypercalciuria and, subsequently, with hyperprostaglandin E, syndrome. The patient was born after premature delivery with a history of polyhydramnios. During the first two years of life,

Severe pseudohypoaldosteronism in a pair of twins not associated with hydramnios.

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A pair of non-identical twins with severe pseudohypoaldosteronism (PHA) were followed over a period of 4 years. The diagnosis was based on dehydration, hyponatremia, hyperkalemia, high urine sodium/potassium ratios, and high serum concentrations of aldosterone and renin. Sweat and saliva electrolyte

Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation.

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HNF1B mutation is the leading cause of isolated hyperechogenic fetal kidneys with normal or moderately large size. Although most cases have normal amniotic fluid volume, some cases present with early oligohydramnios and renal failure associated with high perinatal mortality. Here we report on seven

Biochemical composition of fluids for amnioinfusion during fetoscopy.

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OBJECTIVE To evaluate which of the commercially available solutions is best suited for amnioinfusion during fetoscopy, based on resemblance with the biochemical properties of amniotic fluid. METHODS Amniotic fluid samples from 10 pregnancies were studied. Specimens were obtained from 5 pathologic

[The neonatal form of Bartter's syndrome: current findings in etiology and physiopathology].

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I. Time has come to distinguish "Bartter syndrome" from "Bartter disease". The latter is an autosomal recessive renal tubulopathy which manifests itself mostly during infancy and childhood. II. Bartter disease is caused neither by a primary renal potassium loss nor by a primary renal

Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.

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OBJECTIVE Hypokalemic salt-losing tubulopathies (Bartter-like syndromes) comprise a set of clinically and genetically distinct inherited renal disorders. Mutations in four renal membrane proteins involved in electrolyte reabsorption have been identified in these disorders: the furosemide-sensitive

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.

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Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of ATP-sensitive potassium (KATP ) channels, respectively. Multiple case reports of affected individuals have described the various

Clinical and diagnostic features of Bartter and Gitelman syndromes.

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UNASSIGNED Bartter and Gitelman syndromes are autosomal recessive disorders of renal tubular salt handling. Due to their rarity, limited long-term data are available to inform prognosis and management. UNASSIGNED Long-term longitudinal data were analysed for 45 children with pathogenic variants in

[Antenatal form of Bartter's syndrome].

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Six cases of tubular disorder of antenatal onset responsible for biological manifestations characteristic of Bartter syndrome and severe hypercalciuria are reported. In all six cases, severe hydramnios occurred during pregnancy between the 26th and 28th week after the last menstrual period. All six

Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report

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Background: Bartter syndrome subtypes are a group of rare renal tubular diseases characterized by impaired salt reabsorption in the tubule, specifically the thick ascending limb of Henle's loop. Clinically, they are characterized by the

Genotype-phenotype correlations in normotensive patients with primary renal tubular hypokalemic metabolic alkalosis.

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Among the different forms of hereditary renal tubulopathies associated with hypokalemia, metabolic alkalosis and normotension, two main types of disorders have been identified: Gitelman disease, which appears to be a homogeneous post-Henle's loop disorder, and Bartter syndrome, a heterogeneous Henle

Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea.

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BACKGROUND Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. We are presenting an infant with pseudo-Bartter syndrome caused by congenital chloride diarrhoea. METHODS A male newborn born in the 37th gestational week (GW) to young healthy and

A new method for selective reduction in TRAP sequence with a contraindication to fetoscopic surgery: A case report.

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BACKGROUND The preferred method for multifetal pregnancy reduction (MFPR) is a transabdominal intrathoracic or intracranial injection of potassium chloride (KCl). However, in monochorionic multiple pregnancies (MMPs), especially in monoamnionic multifetal pregnancies, selective feticide by this
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