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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La maladie de Cacchi et Ricci chez un enfant de 13 ans – EM|consulte
American Journal of Roentgenology. A rare, autosomal recessive form is associated with Caroli disease. 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, excruciating pain.
This pain can often be debilitating and treatment is challenging. Patients with the more rare form of MSK marked by chronic pain typically require pain management. If you want to subscribe to this journal, see our rates You can purchase this item in Pay Per View: Retrieved from ” https: You can move this window by clicking on the headline.
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While some patients report increased chronic kidney pain, the source of the pain, dee a UTI or blockage is not present, is unclear at this time. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise.
Hematuria ; Kidney sponge ; Kidney diseases ; Lithiasis ; Child. Curr Opin Nephrol Hypertens. From Wikipedia, the free encyclopedia.
Families with autosomal dominant inheritance reported. Non-obstructing stones in MSK can be associated with significant and chronic pain even if they’re not passing. MSK was previously believed not to be hereditary but there is more evidence coming forth that may indicate otherwise. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.
Only comments written in English can be processed. D ICD – Access to the full text of this article requires a subscription. A medical eponym is thus any word related to medicine, whose name is derived from a person.
Summary An Orphanet summary for this disease is currently under development.
For all other comments, please send your remarks via contact us. The pain in this situation can be constant.
In recent studies, insight has been obtained on the genetic basis of this disease, supporting the hypothesis that MSK is due to a disruption at the ‘ureteric bud-metanephric mesenchyme’ interface. Specialised Social Services Eurordis directory.
If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: The maladi of this website hereby guarantee to respect the legal confidentiality conditions, applicable in France, and not to disclose this data to third parties. Uncomplicated form usually asymptomatic.
Access to the text HTML. Urachal cyst Urachal fistula Urachal sinus.
Summary and related ed. 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.
Health care resources for this disease Expert centres Diagnostic tests 1 Patient organisations 13 Orphan drug s malladie. It is not certain 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 ve kidney which could lead to the pain.
Current Opinion in Nephrology and Hypertension. Most cases are asymptomatic or are discovered during an investigation of blood in the urine.
Retrieved 21 May Urachus Urachal cyst Urachal fistula Urachal sinus. As per the Law relating to information storage and personal integrity, you have the right to oppose art 26 of that lawaccess art 34 of that law and rectify art 36 of that law your personal data.
Archived from the original PDF on However, other data related to the disease are accessible from the Additional Information menu located at the bottom of this page. An eponym is a word derived from the name of a person, whether real or fictional. Additional information Further information on this disease Classification s 3 Gene s 0 Clinical signs and symptoms Other website s 3.