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ABSTRACT: Cystic kidney diseases often are discovered at the time of initial work-up of renal failure through ultrasound or family history, or incidentally at the time of an imaging test. Hereditary diseases include autosomal dominant or recessive polycystic kidney disease (PKD), tuberous sclerosis (TS) and medullary cystic kidney disease (MCKD). Autosomal dominant PKD is characterized by large renal cysts developing in young adults. Renal failure is progressive and becomes severe around 50-60 years of age. Atypical cysts (hemorrhagic or hyperdense) are frequent on CT and MRI examinations. Imaging plays a valuable role in the management of acute complications such as cyst hemorrhage or infection. Autosomal recessive PKD is often detected in neonates, infants or young adults. It is characterized by renal enlargement due to the presence of small cysts and liver disease (fibrosis and biliary ductal dilatation). Late manifestation or slow progression of autosomal recessive PKD may be more difficult to distinguish from autosomal dominant PKD. These cystic kidney diseases should not be confused with non-hereditary incidental multiple renal cysts. In tuberous sclerosis, renal cysts are associated with angiomyolipomas and sometimes pulmonary lymphangioleiomyomatosis. Renal failure is inconstant. Other hereditary cystic kidney diseases, including MCKD and nephronophtisis, are usually associated with renal failure. Non-hereditary cystic kidney diseases include multicystic renal dysplasia (due to complete pelvi-ureteric atresia or hydronephrosis), acquired multicystic kidney disease (chronic renal failure, chronic hemodialysis) and varied cystic kidney diseases (multicystic renal disease, glomerulocystic kidney disease, microcystic kidney disease).
Journal de Radiologie 04/2011; 92(4):308-22. · 0.42 Impact Factor
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ABSTRACT: Renal cysts arising from collecting ducts, congenital hepatic fibrosis, and recessive inheritance characterize autosomal recessive polycystic kidney disease (ARPKD). The disorder usually manifests in infancy, with a high mortality rate in the first year of life. For the patients who survive the neonatal period, the probability of being alive at 15 years of age ranges from 50 to 80%, with 56--67% of them not requiring renal replacement therapy at that stage. Some develop portal hypertension. Long-term outcome of adults escaping renal insufficiency above age 18 is largely unknown.
In consecutive patients with ARPKD and autonomous renal function at age 18, clinical course of kidney and liver disease in adulthood and status at last follow-up were evaluated. Progression of renal insufficiency was assessed by the rate of decline of creatinine clearance, according to Schwartz's formula before age 18 and Cockcroft and Gault formula thereafter. Severity of liver involvement was estimated by imaging techniques, liver function tests, and endoscopy.
Sixteen patients from 15 families were included. ARPKD was diagnosed between 1 day and 13 years of age. From diagnosis, mean follow-up period lasted 24+/-9 years. Before age 18, nine patients (56%) were hypertensive, nine (56%) had renal failure, and four (25%) had portal hypertension. Beyond age 18, no additional patient became hypertensive, and another five developed progressive renal insufficiency; altogether, the mean yearly decline of creatinine clearance was 2.9+/-1.6 ml/min. Portal hypertension was recognized in two additional patients. Four patients experienced gastro-oesophageal bleeding, while recurrent cholangitis or cholangiocarcinoma developed in one case each. At the end of follow-up, 15/16 patients (94%) were alive at a mean age of 27 (18--55) years. Two patients had a normal renal function, 11 had chronic renal insufficiency, one was on regular dialysis, and two had functioning kidney grafts. Four patients had required a porto-systemic shunt.
A subset of ARPKD patients with autonomous renal function at age 18 experiences slowly progressive renal insufficiency. With prolonged renal survival, complications related to portal hypertension are not rare, requiring careful surveillance and appropriate management.
Nephrology Dialysis Transplantation 09/2001; 16(8):1648-52. · 3.40 Impact Factor
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La Revue de Médecine Interne 07/2001; 22 Suppl 1:16s-17s. · 0.61 Impact Factor
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La Revue du praticien 04/2001; 51(6):667-73.
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Journal of the American Society of Nephrology 10/2000; 11(9):1767-75. · 9.66 Impact Factor
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P R Hammel,
V Vilgrain,
B Terris,
A Penfornis,
A Sauvanet,
J M Correas, D Chauveau,
A Balian,
C Beigelman,
D O'Toole,
P Bernades,
P Ruszniewski,
S Richard
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ABSTRACT: Pancreatic involvement in von Hippel-Lindau (VHL) disease, a genetic disorder with a dominant mode of inheritance affecting various organs, has rarely been studied. We assessed the prevalence, type of lesions, natural history, and impact of pancreatic involvement in patients with VHL.
A total of 158 consecutive patients from 94 families with VHL disease were studied in a prospective French collaborative study. All patients underwent systematic screening for VHL lesions, including computerized tomography (CT) scanning of the pancreas reviewed by an experienced radiologist. Clinical data, investigations, and treatments performed were also reviewed.
Pancreatic involvement was observed in 122 patients (77.2%) and included true cysts (91.1%), serous cystadenomas (12.3%), neuroendocrine tumors (12.3%), or combined lesions (11.5%). The pancreas was the only organ affected in 7.6% of patients. Patients with pancreatic lesions had fewer pheochromocytomas than those without (14/122 vs. 16/36; P<0.0001), and patients with neuroendocrine pancreatic tumors had renal involvement less often than those without (8/99 vs. 6/20; P = 0.013). None of the patients with neuroendocrine tumors had symptoms of hormonal hypersecretion. Pancreatic lesions evolved in half of patients but required specific treatment in only 10 (8.2%) when they were symptomatic or for the resection of large neuroendocrine tumors.
Pancreatic involvement is seen in most patients with VHL disease. Although symptoms are rare, specific treatment of pancreatic lesions is required in selected patients, mainly those with neuroendocrine tumors.
Gastroenterology 10/2000; 119(4):1087-95. · 11.68 Impact Factor
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Nephrology Dialysis Transplantation 08/2000; 15(7):1100. · 3.40 Impact Factor
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ABSTRACT: Renal lesions in von Hippel-Lindau disease comprise clear cell simple cysts, atypical cysts and carcinomas. Although histological and molecular studies suggest that cystic lesions may represent precursors of carcinomas, there is no detailed phenotypic evidence of their relationship.
To investigate such a possible relationship between cystic lesions and solid carcinomas, we studied the pathological and immunohistochemical features of 328 lesions of 33 kidneys originating from 23 patients with von Hippel-Lindau disease, using a panel of antibodies directed against cytoskeleton proteins, cell surface proteins, integrin subunits, adhesion molecules, lectins, and apoptosis and proliferation markers. Solid carcinomas (n = 175) were all of clear cell type and mostly nuclear grade 1. Cystic lesions (n = 138) consisted of cystic clear cell carcinomas (n = 15), atypical cysts (n = 20) and simple cysts (n = 103). Clear cells of the simple cysts, atypical cysts and solid carcinomas coexpressed cytokeratins (CK8, CK19) and vimentin, and expressed a similar pattern of tubular markers (CD24, tetraglonolobus), integrin subunits (alpha3, alpha5, alpha6, alphav, beta1) and cell adhesion molecules (ICAM 1, VCAM 1). In all lesions studied, proliferation rate (MIB1 index) was low, and apoptosis marker expression (fragmented DNA, p53, bcl-2) inconspicuous.
Phenotypic alterations found in solid renal cell carcinomas are already present in simple and atypical renal cysts of von Hippel-Lindau disease.
Histopathology 06/2000; 36(5):457-65. · 3.08 Impact Factor
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C Junien,
J M Dupret,
C Gallou,
S Longuemaux,
S Richard,
C Saquet,
R Krishnamoorty,
C Delomenie,
D Droz,
R Bouvier, D Chauveau,
D Joly,
J P Grunfeld,
Y Chretien,
A Mejean,
C Beroud
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ABSTRACT: The development of renal cell carcinoma (RCC) has been associated with both genetic and environmental factors, with somatic and germline mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and with tobacco smoking, obesity, long term exposure to some nutrients, pollutants, and industrial solvents such as trichloroethylene. Intra and interfamilial variability of expression of germline mutations in the VHL gene and variable susceptibility to carcinogens in the sporadic forms strongly suggest the involvement of conditional modifier genes. In order to identify sub groups of individuals at increased risk because of susceptibility genotypes, we have collected a series of 460 patients who developed an RCC and 79 families with the von Hippel Lindau disease. To collect clinical and mutational data for correlation analysis we have developed a unique tool the Universal Mutation Database. Comparison of the spectrum of germline and somatic mutations in the VHL gene showed that: 1) in sporadic RCC mutations lead more often to truncated proteins (83%), while the remaining mutations (17%), include 3/4 of transversions and 1/4 of transitions. This high proportion of transversions supports the involvement of carcinogens the impact of which is conditioned by the genetic variability of xenobiotic metabolizing enzymes; 2) whereas in familial cases missense mutations are more common; this difference allowed us to define a prognostic factor for the occurrence of RCC in a VHL context. In order to look for genotypes conferring a higher risk we genotyped the RCC patients for 8 different genes (50 genotypes). A significant relationship was observed for several combinations of alleles including CYP1A1 ("variant"), NAT2 and NAT1 (slow) and GSTM1 (null allele). Associations between specific mutational profiles and at risk genotypes at different tumoral stages should allow us to: 1) define more precisely the nature of specific patterns of mutations in relation with the deficiency or overexpression of such or such enzymes in presence of particular carcinogens; 2) demonstrate that certain combinations of genotypes confer a particular risk to develop a specific type of tumor in VHL patients. Thus tracking of potentially carcinogenic substances, through their footprints and through identification of conditionally detrimental genotypes of genes participating in their detoxification should permit a better prevention through an appropriate nutrition adapted to each individual.
Journal de la Société de Biologie 02/2000; 194(1):29-38.
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ABSTRACT: Renal fibrosis is found in genetic kidney diseases. In some of them, fibrosis may be due to mechanisms not dependent on the gene defect. In other cases, fibrosis depends more specifically on the gene defect: e.g. in juvenile nephronophthisis where interstitial fibrosis predominates, or in Alport's syndrome where glomerulosclerosis is triggered probably by unbalanced distribution of alpha chains of type IV collagen in glomerular basement membrane. Study of genes predisposing to renal fibrosis and progression is more complex. Genes regulating the renin-angiotensin system have been considered. The DD polymorphism of the converting enzyme gene may be associated with a more rapid progression rate of renal failure in glomerular and non-glomerular diseases. This remains, however, to be confirmed in more appropriate studies.
Bulletin de l'Académie nationale de médecine 02/1999; 183(1):57-63. · 0.25 Impact Factor
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ABSTRACT: We retrospectively evaluated maternal and fetal outcomes in a series of women with von Hippel-Lindau disease. Data resulted from 56 pregnancies in 30 women. Symptoms related to von Hippel-Lindau disease occurred in 3 of 56 pregnancies. In this unselected group of patients with von Hippel-Lindau disease, most pregnancies had a favorable outcome with a 96.4% survival rate for fetuses and a 5.4 % von Hippel-Lindau-specific morbidity rate in the mothers.
American Journal of Obstetrics and Gynecology 02/1999; 180(1 Pt 1):110-1. · 3.47 Impact Factor
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ABSTRACT: Polycystic liver disease is sometimes responsible for chronic symptoms linked to hepatomegaly which can result in acute complications such hemorrhage or infection of cysts. The aim of this retrospective study was to evaluate the results of partial hepatic resection in patients with symptomatic or complicated polycystic liver disease.
Twelve patients (11 women and one man, mean age 49) with diffuse polycystic liver disease were treated by partial liver resection (left lateral lobectomy in 7, left hepatectomy in 4, and extended right hepatectomy in 1). Four patients had terminal renal failures and three had chronic haemodialysis. Median follow-up was 34 months.
Ascites occurred postoperatively in 10 patients (83%) and was long-lasting (> 2 weeks) in 5; all patients with end-stage renal failure had long-lasting ascites. One of them died on the 40th postoperative day of ascites infection. Another patient with end-stage renal failure died two years postoperatively from chronic disabling ascites and malnutrition while awaiting kidney transplantation. The 10 other patients were markedly improved after partial liver resection, including a marked decrease in hepatomegaly, and the disappearance of chronic symptoms and cystic complications. This beneficial effect was incomplete in the two surviving patients with end-stage renal failure until kidney transplantation was performed.
These results suggest that partial liver resection is a highly effective treatment in patients with symptomatic polycystic liver disease, preferably before the onset of end-stage renal failure.
Gastroentérologie Clinique et Biologique 02/1998; 22(1):50-4. · 0.80 Impact Factor
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ABSTRACT: To try to define when and what type of operation should be performed in von Hippel-Lindau disease (VHL) with renal involvement.
Between 1985 and July 1996, 43 patients with renal involvement of VHL disease were followed in our department. We decided to operate on patients with one or several solid or complex tumours greater than 2.5 cm in diameter, by means of conservative surgery (tumour excision removing a layer of healthy parenchyma) when the kidney did not contain more than 5 or 6 tumours or radical nephrectomy in the other cases. Subsequent follow-up consisted of CT, chest x-ray and renal function tests every 6 months.
Twenty-nine patients with a mean age of 33.6 years were operated. 21 patients (29 kidneys) were treated by conservative surgery: in situ in 20 cases and ex vivo in 9 cases; 3 cases were treated by bilateral radical nephrectomy, 4 by unilateral radical nephrectomy and 1 by resection of the prominent dome for urinary tract obstruction. Four cases of acute arterial thrombosis were observed following ex vivo surgery, requiring nephrectomy in every case. No serious complications were observed with in situ conservative surgery. A new lesion in the renal parenchyma remaining after conservative surgery was observed in 5 cases during follow-up (mean: 29 months). No local recurrence was observed after radical nephrectomy. Two nonoperated patients developed metastatic disease.
Conservative treatment is usually possible: either simple surveillance, in the absence of any solid or complex tumours larger than 2.5 cm in diameter, or conservative surgery for tumours larger than 2.5 cm in diameter, with no more than 6 tumours per kidney; this attitude requires six-monthly follow-up by CT of the renal parenchyma.
Progrès en Urologie 01/1998; 7(6):939-47. · 0.58 Impact Factor
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La Revue du praticien 12/1997; 47(17):1933-6.
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Kidney International 11/1997; 52(4):871-85. · 6.61 Impact Factor
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ABSTRACT: The outcome and consequences of pregnancy in women with impaired renal function are still debated. To assess the benefit of recent advances in coordinated obstetrical and nephrologic management, we analyzed fetal and maternal outcome of 43 pregnancies in 30 women with various types of primary renal disease and moderate to severe renal failure at conception defined by serum creatinine concentration (Scr) ranging from 0.11 to 0.49 mmol/l. All pregnancies took place during the 20-year period from 1975 through 1994 and were prospectively followed jointly by our Nephrology Unit and Obstetric and Neonatology Units of University Hospitals. Of the 43 pregnancies (45 fetuses), 13 ended in fetal death (including 5 first-trimester abortions and 8 fetal deaths beyond the 20th gestational week). There were 32 live births, a success rate of 82% not considering first-trimester abortions. Successful pregnancies were significantly more frequent in the last decade than in the preceding one (91 vs 65%, p = 0.05). Overall live birth rate was higher in pregnancies started with Scr < 0.20 mmol/l than in those with Scr > 0.20 mmol/l (80% vs 53%, p = 0.02). The upper preconception Scr value associated with a successful fetal outcome was 0.27 mmol/l. Hypertension was the major factor of fetal prognosis, as the relative risk of fetal loss was 10.6 times higher when hypertension was present at conception or early in pregnancy than when blood pressure was spontaneously normal or well-controlled by therapy. An accelerated course toward end-stage renal failure was observed in 7 patients (23%), all of whom had severe hypertension and heavy proteinuria at conception. We conclude that fetal outcome in patients with impaired renal function has been improved in recent years, due to advances in obstetrics and neonatology, improved blood pressure control and close co-operation between nephrologists and obstetricians, but that a risk of fetal loss and of accelerated deterioration of maternal renal disease still persists when Ccr at conception is lower than 25-30 ml/ min/1.73 m2.
Clinical nephrology 05/1997; 47(5):281-8. · 1.17 Impact Factor
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Nephrology Dialysis Transplantation 04/1997; 12(3):578-81. · 3.40 Impact Factor
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Advances in nephrology from the Necker Hospital 02/1997; 26:265-89.
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Nephrology Dialysis Transplantation 02/1997; 12(1):228-30. · 3.40 Impact Factor
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Nephrology Dialysis Transplantation 11/1996; 11(10):2067-9. · 3.40 Impact Factor
