Publications of Jacques LOMBET
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See detailADPedKD: A Global Online Platform on the Management of Children With ADPKD
De Rechter, Stéphanie; Bockenhauer, Detlef; Guay-Woodford, Lisa M. et al

in Kidney International Reports (2019), 4(9), 1271-1284

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade ... [more ▼]

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade, it has become more widely appreciated that the disease course begins in childhood. However, evidence-based guidelines on how to manage and approach children diagnosed with or at risk of ADPKD are lacking. Also, scoring systems to stratify patients into risk categories have been established only for adults. Overall, there are insufficient data on the clinical course during childhood. We therefore initiated the global ADPedKD project to establish a large international pediatric ADPKD cohort for deep characterization. Methods: Global ADPedKD is an international multicenter observational study focusing on childhood-diagnosed ADPKD. This collaborative project is based on interoperable Web-based databases, comprising 7 regional and independent but uniformly organized chapters, namely Africa, Asia, Australia, Europe, North America, South America, and the United Kingdom. In the database, a detailed basic data questionnaire, including genetics, is used in combination with data entry from follow-up visits, to provide both retrospective and prospective longitudinal data on clinical, radiologic, and laboratory findings, as well as therapeutic interventions. Discussion: The global ADPedKD initiative aims to characterize in detail the most extensive international pediatric ADPKD cohort reported to date, providing evidence for the development of unified diagnostic, follow-up, and treatment recommendations regarding modifiable disease factors. Moreover, this registry will serve as a platform for the development of clinical and/or biochemical markers predicting the risk of early and progressive disease. © 2019 International Society of Nephrology [less ▲]

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See detailVitamin D-Resistant Rickets and Cinacalcet-One More Favorable Experience.
Nicolescu, Corina Ramona ULiege; Lombet, Jacques ULiege; Cavalier, Etienne ULiege

in Frontiers in Pediatrics (2018), 6

Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by early onset of severe rickets, with a complete triad of clinical, biochemical and skeletal abnormalities ... [more ▼]

Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by early onset of severe rickets, with a complete triad of clinical, biochemical and skeletal abnormalities. Homozygous or heterozygous mutations in the vitamin D receptor (VDR) gene leading to complete or partial target organ resistance to the action of 1alpha, 25-dihydroxyvitamin D3 (the active form of vitamin D) are responsible for HVDRR. Theoretically the therapeutic goal is to overcome this tissue resistance, and to normalize calcium and phosphate homeostasis. Practically, the treatment could be oriented to correct the secondary hyperparathyroidism to avoid long-term negative impact on bone health. The conventional therapeutic strategy (high-dose calcium plus active vitamin D metabolites) gives variable responses in magnitude and duration. We report a case of HVDRR with heterozygous mutation in the VDR gene, neonatal alopecia, and a severe clinical phenotype diagnosed at the age of 30 months who showed unsatisfactory response to traditional therapy. The short-term responsiveness to cinacalcet was encouraging, with adequate correction of phosphate-calcium homeostasis and significant improvement of clinical and radiological status at 6 months of treatment. [less ▲]

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See detailRisk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.
Burgmaier, Kathrin; Kunzmann, Kevin; Ariceta, Gema et al

in Journal of Pediatrics (2018), 199

OBJECTIVE: To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney disease (ARPKD) as a basis for ... [more ▼]

OBJECTIVE: To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney disease (ARPKD) as a basis for parental counseling after prenatal and perinatal diagnosis. STUDY DESIGN: A dataset comprising 385 patients from the ARegPKD international registry study was analyzed for potential risk markers for dialysis during the first year of life. RESULTS: Thirty-six out of 385 children (9.4%) commenced dialysis in the first year of life. According to multivariable Cox regression analysis, the presence of oligohydramnios or anhydramnios, prenatal kidney enlargement, a low Apgar score, and the need for postnatal breathing support were independently associated with an increased hazard ratio for requiring dialysis within the first year of life. The increased risk associated with Apgar score and perinatal assisted breathing was time-dependent and vanished after 5 and 8 months of life, respectively. The predicted probabilities for early dialysis varied from 1.5% (95% CI, 0.5%-4.1%) for patients with ARPKD with no prenatal sonographic abnormalities to 32.3% (95% CI, 22.2%-44.5%) in cases of documented oligohydramnios or anhydramnios, renal cysts, and enlarged kidneys. CONCLUSIONS: This study, which identified risk factors associated with onset of dialysis in ARPKD in the first year of life, may be helpful in prenatal parental counseling in cases of suspected ARPKD. [less ▲]

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See detailStunted growth and alopecia totalis: A case report
Boodhoo, Fadil Mohammud ULiege; BARREA, Christophe ULiege; Lombet, Jacques ULiege et al

in Belgian Journal of Paediatrics (2018, March), 20(1),

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See detailOral treatment of febrile urinary tract infection in children: Feasibility and follow-up
DACHY, Angélique ULiege; EIRAS DA SILVA, Sandra ULiege; THELEN, Alexandra et al

in Archives de Pédiatrie (2016, May 19), 23(6), 642-643

To assess the feasibility of oral treatment protocol with available oral antibiotics in Belgium in children admitted in a emergency unit in a single center for a febrile urinary tract infection

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See detailL'image du mois. Un accessoire de Noel bien encombrant
Nyamugabo, K.; Poirrier, Anne-Lise ULiege; Spote, Véronique ULiege et al

in Revue Médicale de Liège (2008), 63(1), 56

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See detailPrevention de l'infection respiratoire a VRS par immunoglobulines monoclonales specifiques (palivizumab, Synagis)
De Halleux, Virginie ULiege; Lombet, Jacques ULiege; Rigo, Jacques ULiege

in Revue Médicale de Liège (2007), 62(5-6, May-Jun), 299-302

Respiratory syncytial virus (RSV) is a serious pathogen causing significant morbidity, especially in premature infants and infants with chronic lung disease or significant congenital heart disease. There ... [more ▼]

Respiratory syncytial virus (RSV) is a serious pathogen causing significant morbidity, especially in premature infants and infants with chronic lung disease or significant congenital heart disease. There is no specific treatment for RSV infection and the therapy is essentially supportive. Therefore, prophylaxis is the best strategy against RSV disease. Passive immunization with monoclonal antibodies (palivizumab) provides protection against severe RSV infection and significantly reduces hospitalizations in high-risk childrens. However, palizumab is an expensive drug and its use should be reserved for children at the highest risk of severe RSV disease. [less ▲]

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See detailBony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias
Verloes, Alain ULiege; Raoul, M.; Genevieve, D. et al

in Clinical Dysmorphology (2004), 13(4), 205-211

Congenital bony fusion of the maxilla and mandible is a rare condition. Two classifications were previously proposed dealing exclusively with craniofacial malformations. Most of the reported cases to date ... [more ▼]

Congenital bony fusion of the maxilla and mandible is a rare condition. Two classifications were previously proposed dealing exclusively with craniofacial malformations. Most of the reported cases to date represent either aglossia-aclactylia or hemifacial microsomia syndromes. We report a young girl with bony syngnathia associated with multiple defects (severe microcephaly, coloboma, vertebral segmentation defects), growth and mental delay. This patient is very similar to the patient described by Dobrow in 1983 and confirms the existence of this extremely rare disorder. (C) 2004 Lippincott Williams Wilkins. [less ▲]

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See detailPrivate Multiple Congenital Anomaly Syndromes May Result from Unbalanced Subtle Translocations: T(2q;4p) Explains the Lambotte Syndrome
Herens, Christian ULiege; Jamar, Mauricette ULiege; Alvarez Gonzalez, Maria-Luz ULiege et al

in American Journal of Medical Genetics (1997), 73(2), 127-31

In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrome observed in 4 of 12 sibs from a probably consanguineous mating ... [more ▼]

In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrome observed in 4 of 12 sibs from a probably consanguineous mating [Verloes et al., Am J Med Genet 1990; 37:119-123]. Major manifestations included intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, hypertelorism, beaked nose, and extremely severe neurologic impairment, with holoprosencephaly in one instance. After the observation of a further affected child born of one unaffected sister, in situ hybridization analysis and chromosome painting techniques demonstrated a subtle t(2;4)(q37.1; p16.2) translocation in the mother, suggesting a combination of 2q/4p trisomy/monosomy in all of the affected children of the family. Many private sporadic or recurrent MCA/MR syndromes maybe due to similar symmetric translocations, undetectable by conventional banding techniques. [less ▲]

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See detailAcute experimental glomerulonephritis induced by the glomerular deposition of circulating polymerid IgA-Concanavalin A complexes
Davin, J.-C.; Dechenne, Charles ULiege; Lombet, Jacques ULiege et al

in Virchows Archiv. A: Pathological Anatomy and Histopathology (1989), 415(1), 7-20

The perfusion of polymeric or secretory IgA-Concanavalin A complexes into the aorta of rats led to a mannose-dependent binding of both IgA and lectin to the glomerular capillary wall, as shown by double ... [more ▼]

The perfusion of polymeric or secretory IgA-Concanavalin A complexes into the aorta of rats led to a mannose-dependent binding of both IgA and lectin to the glomerular capillary wall, as shown by double immunolocalization experiments, by quantitative analysis of the amount of radiolabeled complexes bound per g of kidney, and by blocking experiments with the corresponding carbohydrate. Rats injected with amounts of those complexes as low as 500 ?g developed, one hour later, a focal and segmental proliferative glomerulonephritis characterized by the deposition of injected complexes and of rat C3 and rat fibrin/ fibrinogen in most glomeruli ; focal thrombosis and small areas of necrosis in 10 to 15% of glomeruli, confined to the periphery of a single lobule of the tuft and segmental infiltration of these glomeruli by polymorphonuclear leucocytes and platelets. At the same time, many mesangial cells exhibited a hyperactive appearance, and red blood cells were noted in tubular lumens. In contrast, rats similarly injected with either monomeric IgA-ConA complexes, multimeric or secretory IgA-peanut agglutinin complexes or polymeric or monomeric IgA aggregates of comparable apparent molecular weight did not develop obvious glomerular lesions within one hour. The data indicate that preformed polymeric IgA-ConA complexes can specifically bind to glomerular structures in vivo and trigger acute glomerular lesions locally, analogous to those observed in some glomerular diseases associated with a cryoglobulinemia. [less ▲]

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