Filter by keywords:



Filtering documents. Please wait...

11/40. Caroli's disease diagnosed in a child by MRCP.

    We describe a case of Caroli's disease associated with a choledochal cyst and autosomal recessive polycystic kidney disease in a child whose diagnosis was confirmed with magnetic resonance cholangiopancreatography (MRCP), after initial abnormalities were seen by ultrasonography. Invasive procedures such as liver biopsy or endoscopic retrograde cholangiopancreatography (ERCP) were, therefore, not necessary. Recent radiological advances in the diagnosis of Caroli's disease with particular emphasis on MRCP are discussed.
- - - - - - - - - -
ranking = 1
keywords = kidney disease, kidney
(Clic here for more details about this article)

12/40. Transjugular intrahepatic portosystemic shunt prior to renal transplantation in a child with autosomal-recessive polycystic kidney disease and portal hypertension: A case report.

    Autosomal-recessive polycystic kidney disease (ARPKD) can cause renal failure and portal hypertension in children. Portal hypertension may complicate the course of renal transplantation (Tx). We report the successful outcome of a patient with end-stage renal disease (ESRD) and portal hypertension treated with transjugular intrahepatic portosystemic shunt (TIPS), a minimally invasive endovascular technique of portosystemic shunt, prior to renal Tx.
- - - - - - - - - -
ranking = 5
keywords = kidney disease, kidney
(Clic here for more details about this article)

13/40. Intracranial aneurysms in a child with autosomal recessive polycystic kidney disease.

    Intracranial aneurysms (ICA) are a well-known feature of autosomal dominant polycystic kidney disease. There is only one report about ICA in an adult patient with autosomal recessive polycystic kidney disease (ARPKD). We observed a 2-year, 6-month old girl with ARPKD and multiple ICA. The family history is negative for kidney disease. The diagnosis of ARPKD was based on the typical findings in ultrasonography and computed tomography. Cystic ectasia of biliary ducts 6.3/4.8 cm in diameter was found in the liver. Arterial hypertension in a range of 140/100-170/120 mm Hg was registered. The child has polyuria, polydipsia and enuresis. Blood urea was 15 mmol/l, creatinine in a range of 120 to 75 micromol/l. One episode of vomiting, dizziness and lethargy was the reason for a brain magnetic resonance imaging. Multiple fusiform and saccular aneurysms in the branches of middle and posterior cerebral arteries were seen bilaterally. The girl is growing well without neurological symptoms during an observation period of 1.5 years. blood pressure is well controlled with an ACE inhibitor (enalapril 2.5 mg daily). It was concluded that ICA can be found in patients with ARPKD. blood pressure control is essential to reduce the risk of intracranial hemorrhage.
- - - - - - - - - -
ranking = 7
keywords = kidney disease, kidney
(Clic here for more details about this article)

14/40. Sonography of macrocysts in infantile polycystic kidney disease.

    The typical sonographic appearance of autosomal recessive polycystic kidney disease (ARPKD) has been described as symmetrically enlarged, echogenic kidneys with occasional visualization of small cysts. Modern sonographic equipment, however, allows a greater ability to show parenchymal detail, and multiple tiny cysts and occasionally dilated tubular structures have become apparent. In this report, we describe sonographic findings of ARPKD that are quite similar to the macroscopic appearance. Sonographic images show unusual focal rosettes consisting of a cluster of the radially oriented, dilated collecting tubules that are apparent on pathologic evaluation. It is important to recognize the focal rosette as a manifestation of ARPKD.
- - - - - - - - - -
ranking = 5.0100927144623
keywords = kidney disease, kidney
(Clic here for more details about this article)

15/40. Congenital acute myelogenous leukemia presenting as palpable renal masses in a neonate.

    Our report concerns a neonate who was noted to have palpable kidneys soon after birth. Her clinical and radiologic findings were compatible with the diagnosis of autosomal recessive polycystic kidney disease. The patient eventually died of sepsis-related multiorgan failure, and on autopsy, surprisingly, was found to have leukemic infiltrates in the kidney. Healthcare providers need to be aware that congenital acute myelogenous leukemia, although rare, can present in the newborn period with nephromegaly.
- - - - - - - - - -
ranking = 1.0201854289245
keywords = kidney disease, kidney
(Clic here for more details about this article)

16/40. adrenal insufficiency due to isolated adrenocorticotropin deficiency complicated by autosomal recessive polycystic kidney disease.

    We describe a 29-old-year Japanese man with autosomal recessive polycystic kidney disease who was frequently hypoglycemic. insulinoma as a cause of hypoglycemia was denied because the ratio of plasma immunoreactive insulin to glucose was low. adrenal insufficiency was diagnosed because of the low urinary excretion of 17-hydroxycorticosteroids, and both blunted responses of plasma cortisol to an intravenous injection of adrenocorticotropin and of plasma adrenocorticotropin to an intravenous injection of human corticotropin releasing hormone were observed, although basal plasma concentrations of cortisol and adrenocorticotropin were normal. The elusion profile of plasma sample from our patient chromatographed on a Sephadex G-75 column showed two peaks of (1-39)-ACTH and beta-lipotropin, with no evidence of high molecular weight form of ACTH. The plasma concentrations of thyroid stimulating hormone and growth hormone were within the normal range. These findings indicated that this patient with autosomal recessive polycystic kidney disease was associated with adrenal insufficiency due to isolated adrenocorticotropin deficiency.
- - - - - - - - - -
ranking = 6
keywords = kidney disease, kidney
(Clic here for more details about this article)

17/40. Acute visual loss in a child with autosomal recessive polycystic kidney disease: case report and review of the literature.

    Acute visual loss secondary to ischemic optic neuropathy in children is extremely rare. The causes are usually hypotension or anemia. We describe the clinical course of a 9-year-old boy with a functional renal transplant who presented to the emergency room hemodynamically stable after waking up with complete bilateral loss of vision (no light perception). Examination showed that he had suffered massive nocturnal blood loss from esophageal varices secondary to portal hypertension. The patient's end-stage renal disease was secondary to autosomal recessive polycystic kidney disease (ARPKD), an entity comprised of renal cysts and hepatic fibrosis. Ophthalmologic findings in ARPKD are rarely cited in the literature. A literature search revealed 3 other cases of sudden visual loss reported in nonophthalmologic journals in patients with ARPKD. Funduscopic examination showed bilateral optic nerve head pallor and swelling with associated flame hemorrhages. The fact that this patient already had mildly pale nerves on presentation, along with hemodynamically compensated blood pressure and pulse, suggested chronic as well as acute ischemia. Based on our findings and other reported cases in the literature, ophthalmologic examinations may be indicated in all patients with ARPKD.
- - - - - - - - - -
ranking = 5
keywords = kidney disease, kidney
(Clic here for more details about this article)

18/40. Autosomal recessive polycystic kidney disease. Clinical and genetic profile. (review and a case report).

    BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder inherited in a recessive manner. The ARPKD gene is located on chromosome 6. The disease is characterised by specific changes in the kidney and liver. AIM: To make a review of modern achievements in studying the clinical, genetic and diagnostic problems concerning ARPKD and contribute an illustrative case. RESULTS: We reviewed modern research on the molecular genetics of autosomal recessive polycystic kidney disease related to PKHD1 gene located on chromosome 6p21-cen, as well as on the role of fibrocystin in the terminal differentiation of the collecting and biliary ductules. The clinical manifestations of the disease in infancy and in early childhood are analysed. A diagnostic algorithm is proposed incorporating both clinical and genetic methods. The illustrative case we reported of a 22-year-old patient with ARPKD supports the view that the disease occurs, though rarely, later than in childhood. CONCLUSION: The authors recommend that in cases with late manifestation of the disease in adolescence with chronic renal failure, possibilities be searched for extracorporeal replacement (renal transplantation) when this is allowed by the complications associated with the congenital liver fibrosis.
- - - - - - - - - -
ranking = 6.0100927144623
keywords = kidney disease, kidney
(Clic here for more details about this article)

19/40. An atypical course of Caroli's disease in a renal transplant patient--case report and review of the literature.

    This is a rare case of Caroli's disease, diagnosed following renal transplantation in a patient with autosomal recessive polycystic kidneys. Despite advanced cystic transformation of the biliary tree with striking architectural changes, there was no evidence of portal hypertension or hepatic fibrosis. Moreover, the patient did not suffer a single episode of cholangitis, a most interesting feature of this case. Her clinical course was punctuated by repeated episodes of gastrointestinal and urinary tract infections with resistant organisms; but fortunately, she had no evidence of septicemia. Recurrent salmonella gastroenteritis indicated a chronic carrier state with the dilated bile ducts possibly acting as a potential reservoir. This has significant implications considering the immune suppression associated with renal transplantation. In general, Caroli's disease is rare. Therefore, a high index of suspicion for the diagnosis of Caroli's disease is warranted especially in patients with ARPKD or ADPKD. Once confirmed, affected patients with end-stage renal disease such as our patient, should ideally undergo combined liver-kidney transplantation.
- - - - - - - - - -
ranking = 0.020185428924521
keywords = kidney
(Clic here for more details about this article)

20/40. New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene.

    Due to the poor prognosis of severe autosomal recessive polycystic kidney disease (ARPKD), there is a strong demand for prenatal diagnosis (PD). Reliable PD testing is possible by molecular genetic analysis only. Although haplotype-based analysis is feasible in most cases, it is associated with a risk of misdiagnosis in families without pathoanatomically proven diagnosis. Linkage analysis is impossible in families where dna of the index patient is not available. Direct mutation analysis of the recently identified polycystic kidney and hepatic disease 1 gene opens new options in families to whom a reliable PD cannot be offered on the basis of linkage analysis. We for the first time report two cases with PD based on mutation detection, illustrating the new options for PD in ARPKD.
- - - - - - - - - -
ranking = 5.0100927144623
keywords = kidney disease, kidney
(Clic here for more details about this article)
<- Previous || Next ->



We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.