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Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.
Arch Med Res
September 2023
Department of Genetics, Hôpital Européen Georges Pompidou Paris, France.
Article Synopsis
- Bartter's syndrome (BS) is a genetic disorder affecting kidney function, leading to imbalances in electrolytes and blood pressure due to loss-of-function variants in specific genes.
- The study aimed to conduct clinical and genetic analyses on families with two types of Bartter syndrome: Antenatal Bartter syndrome (ABS) and Classic Bartter syndrome (CBS).
- Results revealed pathogenic variants in the SLC12A1, KCNJ1, and CLCNKB genes among several patients, highlighting the genetic basis for ABS and CBS.
[Post-obstructive polyuria. Pathophysiological analysis of a case].
Rev Med Chil
April 2023
Clínica Santa María, Santiago, Chile.
The relief of the impediment to urinary flow is the treatment of acute kidney failure due to urinary tract obstruction. However, there is a risk of inducing massive polyuria, which can be self-limited or produce severe contraction of the intravascular volume with pre-renal acute kidney failure and alterations in the internal environment. Polyuria, urine output > 3 L/d or > 200 mL/min for more than 2 hours, can have multiple causes, and can be classified as osmotic, aqueous or mixed.
View Article and Find Full Text PDFGiant anterior sacral meningocele associated with hydroureteronephrosis and renal injury: illustrative case.
J Neurosurg Case Lessons
June 2022
Division of Neurosurgery, Gaffrée and Guinle University Hospital - Ebserh, Rio de Janeiro, Brazil.
Background: Anterior sacral meningocele (ASM) is a defect in the closure of the neural tube. Patients can be asymptomatic or present with genitourinary, neurological, reproductive, or colorectal dysfunction. Magnetic resonance imaging (MRI) is the gold standard test because it can assess communication between the spinal subarachnoid space and the lesion and identify other abnormalities.
View Article and Find Full Text PDFExaggerated natriuresis after renal artery balloon angioplasty for flash pulmonary oedema: a potential complication in one-kidney renovascular hypertension.
J Hypertens
May 2022
Department of Internal Medicine, Zuyderland Medical Centre, Sittard/Heerlen, The Netherlands.
Flash pulmonary oedema is a life-threatening complication of renal artery stenosis. We report a very rare complication in a patient with bilateral atherosclerotic renal artery stenosis who underwent unilateral renal artery angioplasty because of recurrent flash pulmonary oedema. Shortly after the procedure, she developed extreme polyuria (over 201 in the first 48 h) with massive natriuresis (>1000 mmol urinary sodium excretion in the first 24 h).
View Article and Find Full Text PDFPolyuria in post-kidney transplant (KT) patients is a common condition generally attributed to delayed tubular function, fluid administration, and solute diuresis. Since excessive water intake post-KT physiologically suppresses arginine vasopressin (AVP) secretion, central diabetes insipidus (CDI) caused by deficient primary AVP release can be overlooked. Although DDAVP (desmopressin) - a selective AVP V2 receptor agonist - has been used to treat massive polyuria, CDI rarely progresses to kidney injury due to the preservation of fluid balance by thirst-dependent osmoregulation.
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