MALADIE DE CACCHI RICCI PDF

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Archives de pédiatrie – Vol. 11 – N° 1 – p. – La maladie de Cacchi et Ricci chez un enfant de 13 ans – EM|consulte. Kidney Int. Feb;69(4) Medullary sponge kidney (Lenarduzzi-Cacchi -Ricci disease): a Padua Medical School discovery in the s. Gambaro G(1). Cette page est une page de collecte et de diffusion d’informations concernant la maladie de cacchi-ricci (Medullary Sponge Kidney). Venez partager vos.

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Medullary sponge kidney also cacchu as Cacchi—Ricci disease is a congenital disorder of the kidneys characterized by cystic dilatation of the collecting tubules in one or both kidneys. Individuals with medullary sponge kidney are at increased risk for kidney stones and urinary tract infection UTI. While some patients report increased chronic kidney pain, the source of the pain, when a UTI or blockage is not present, is unclear at this time.

MSK was previously believed not to be maladid but there is more evidence coming forth that may indicate otherwise. Most cases are asymptomatic or are discovered during an investigation of blood in the urine. In addition to the typical clinical phenotype of recurrent stone disease, other clinical profiles have now been recognized, that is, an indolent, almost asymptomatic MSK, and a rare form characterized by intractable pain.

Medullary sponge kidney

In recent studies, insight has been obtained on dee genetic basis of this disease, supporting the hypothesis that MSK is due to a disruption at the ‘ureteric bud-metanephric mesenchyme’ interface. This explains why so many tubular defects coexist in this disease, and particularly a distal tubular acidification defect of which the highly prevalent metabolic bone disease is one very important consequence.

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In addition to the typical clinical phenotype of recurrent stone disease, other clinical profiles have now been recognized, that is, an rkcci, almost asymptomatic MSK, and a rare form characterized by intractable, excruciating pain. A rare, autosomal recessive form is associated with Caroli disease. Classically, MSK is seen as hyperechoic papillae with clusters of small stones on ultrasound examination of the kidney or with an abdominal x-ray.

The irregular ectatic collecting ducts are often seen in MSK, which are sometimes described as having a “paintbrush-like” appearance, are best seen on intravenous urography. However, IV urography has been largely replaced by contrast-enhanced, high-resolution helical CT with digital reconstruction.

Often, aggressive treatment is unnecessary for people with MSK disease that does not cause any symptoms asymptomatic. In patients with low levels of citrate maladei the urine hypocitraturia and incomplete distal renal tubular acidosistreatment with potassium citrate helps prevent the formation of new kidney stones. Patients with the more rare form of MSK marked by chronic pain typically require pain management.

Non-obstructing stones in MSK can be associated with significant and chronic pain even if they’re not passing. The pain in this situation can be constant.

It is not riccci what causes this pain but researchers have proposed that the small numerous stones seen in MSK may cause obstruction of the small tubules and collecting ducts in the kidney which could lead to the pain. This pain can often be debilitating and treatment is challenging.

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Maladie de Cacchi-Ricci

Narcotic medication even with large quantities is sometimes not adequate. In the general population, the frequency of medullary sponge kidney disease is reported to be 0. From Wikipedia, the free cscchi.

Retrieved 22 August Curr Opin Nephrol Hypertens. Retrieved 1 January Current Opinion in Nephrology and Hypertension.

La maladie de Cacchi et Ricci chez un enfant de 13 ans – EM|consulte

Harrison’s Principles of Internal Medicine 18th ed. Retrieved 21 May American Journal of Roentgenology. Archived from the original PDF on Congenital malformations and deformations of urinary system Q60—Q64 Ectopic ureter Megaureter Duplicated ureter. Epispadias Hypospadias Posterior urethral valves. Urachal cyst Urachal fistula Urachal sinus. Retrieved from ” https: Congenital disorders of urinary system Kidney diseases.

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This page was last edited on 2 Octoberat By using this site, you agree to the Terms of Use and Privacy Policy. Medullary sponge as malladie on an intravenous pyelogram. Medical geneticsNephrology. D ICD – Urachus Urachal cyst Urachal fistula Urachal sinus.