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Publications (19)

  • A F van Lieburg · Leo A. H. Monnens
    [Show abstract] [Hide abstract] ABSTRACT: A patient with congenital nephrotic syndrome underwent bilateral nephrectomy at the age of 4 months. She showed persistent hypotension from the fourth postoperative day until death at the age of nearly 5 months. No cause for the hypotension could be found. It is postulated that, especially in young infants, a deficiency of renin after bilateral nephrectomy may cause persistent hypotension. An explanation for the putative increased risk of this complication in young infants may be their need for a highly active renin-angiotensin system. Until more is known about the incidence of this complication and its predisposing factors, reluctancy towards the performance of bilateral nephrectomy in children under the age of 6 months is warranted.
    Article · Aug 2001 · Pediatric Nephrology
  • A F van Lieburg · L A Monnens
    [Show abstract] [Hide abstract] ABSTRACT: A newborn girl had chronic renal failure following prenatal exposure to an angiotensin-converting enzyme (ACE) inhibitor, and a young infant with congenital nephrotic syndrome, showed persistent hypotension with neurological complications following bilateral nephrectomy at the age of 4 months. Both died. The renin-angiotensin system (RAS) is well-known for its regulatory function with respect to blood pressure, renal haemodynamics, fluid balance and electrolyte balance. Furthermore, its role in growth and differentiation of the kidneys and urinary tracts is becoming clearer. The RAS is highly important for the foetus and young infant. Extreme caution should be exercised with prenatal exposure to ACE inhibitors or angiotensin receptor blockers and bilateral nephrectomy in young infants.
    Article · May 2001 · Nederlands tijdschrift voor geneeskunde
  • A F van Lieburg · N.V.A.M. Knoers · L.A.H. Monnens
    [Show abstract] [Hide abstract] ABSTRACT: Congenital nephrogenic diabetes insipidus is characterized by insensitivity of the distal nephron to arginine vasopressin. Clinical knowledge of this disease is based largely on case reports. For this study, data were collected on clinical presentation and during long-term follow-up of 30 male patients with congenital nephrogenic diabetes insipidus. The majority of patients (87%) were diagnosed within the first 2.5 yr of life. Main symptoms at clinical presentation were vomiting and anorexia, failure to thrive, fever, and constipation. Three older patients were diagnosed as a result of events not directly related to the disease. Except for a possibly milder phenotype in patients with a G185C mutation, no clear relationship between clinical and genetic data could be found. Most patients were on hydrochlorothiazide-amiloride treatment without significant side effects. Two patients suffered from severe hydronephrosis with a small rupture of the urinary tract after a minor trauma, and two patients experienced episodes of acute urine retention. Height SD scores for age remained below the 50th percentile in the majority of patients, whereas weight for height SD scores showed a catch-up after several years of underweight.
    Article · Oct 1999 · Journal of the American Society of Nephrology
  • A F van Lieburg · N.V.A.M. Knoers · L.A.H. Monnens
    [Show abstract] [Hide abstract] ABSTRACT: In five patients (a boy aged 10 years, a boy aged 3 months, his brother aged 1 week, the brother of the mother of the last-mentioned two boys who had died at the age of one, and a girl of kindergarten age) congenital nephrogenic diabetes insipidus was diagnosed. This rare syndrome (prevalence 1:500,000) is caused by renal insensitivity to the antidiuretic hormone arginine vasopressin. In infancy the symptoms of this disorder are aspecific, and the main symptoms of the disease, polyuria and polydipsia, often remain unnoticed at this young age. A simple anamnesis and a few laboratory tests should suggest the diagnosis. Early diagnosis and genetic counselling are possible as the molecular effects involved have been elucidated.
    Article · Apr 1997 · Nederlands tijdschrift voor geneeskunde
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    S M Mulders · N. V. A. M. Knoers · A F Van Lieburg · [...] · P. M. T. Deen
    [Show abstract] [Hide abstract] ABSTRACT: Nephrogenic diabetes insipidus (NDI) is characterized by the inability of the kidney to concentrate urine in response to vasopressin. The autosomal recessive form of NDI is caused by mutations in the AQP2 gene, encoding the vasopressin-regulated water channel of the kidney collecting duct. This report presents three new mutations in the AQP2 gene that cause NDI, resulting in A147T-, T126M-, or N68S-substituted AQP2 proteins. Expression of the A147T and T126M mutant AQP2 proteins in Xenopus oocytes revealed a relatively small, but significant increase in water permeability, whereas the water permeability of N68S expressing oocytes was not increased. cRNA encoding missense and wild-type AQP2 were equally stable in oocytes. Immunoblots of oocyte lysates showed that only the A147T mutant protein was less stable than wild-type AQP2. The mutant AQP2 proteins showed, in addition to the wild-type 29-kd band, an endoplasmic reticulum-retarded form of AQP2 of approximately 32 kd. Immunoblotting and immunocytochemistry demonstrated only intense labeling of the plasma membranes of oocytes expressing wild-type AQP2. In summary, two mutant AQP2 proteins encoded in NDI are functional water channels. Therefore, the major cause underlying autosomal recessive NDI is the misrouting of AQP2 mutant proteins.
    Full-text Article · Mar 1997 · Journal of the American Society of Nephrology
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    S M Mulders · A F van Lieburg · L. A. H. Monnens · [...] · C H van Os
    Full-text Article · Jan 1997 · European Journal of Clinical Investigation
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    P.M.T. Deen · R A van Aubel · A F van Lieburg · C H van Os
    [Show abstract] [Hide abstract] ABSTRACT: Hereditary nephrogenic diabetes insipidus (NDI) is caused by mutations in either the X-chromosomal gene encoding the vasopressin V2-receptor or in the autosomal gene encoding aquaporin-2. Expressed in Xenopus oocytes, the AQP2 gene mutations found in NDl have been shown to reduce the stability of the encoded protein. This study investigated the in vivo stability of mutant and wild-type aquaporin-2 proteins by measuring their excretion in urine of NDl patients and healthy individuals. On immunoblots, the urine samples from healthy volunteers revealed clear aquaporin-1 and aquaporin-2 signals in antidiuretic but not diuretic states. In the urine of a female patient, whose NDl is explained by low expression of the wild-type V2-receptor gene, aquaporin-2 excretion was high and comparable with that in a healthy individual during antidiuresis. In the urine of a male patient with a non-sense mutation in the V2-receptor gene, a weak aquaporin-2 signal was detected. In NDl patients with mutations in the aquaporin-2 gene, aquaporin-2 could not be detected in urine, suggesting a low stability of mutant aquaporin-2 proteins. In four out of seven NDl patients, aquaporin-1 excretion was relatively high, which suggests a compensatory increase in proximal reabsorption in NDl.
    Full-text Article · Jul 1996 · Journal of the American Society of Nephrology
  • A.F. Van Lieburg · P.M.T. Deen · C.H. Van Os · [...] · N.V.A.M. Knoers
    [Show abstract] [Hide abstract] ABSTRACT: The recent molecular cloning of a group of water-transporting proteins, the aquaporins, has greatly contributed to the understanding of water transport physiology and pathophysiology. So far, six mammalian aquaporins have been identified, four of which are expressed in the kidney. The oldest of these six channel proteins, the major intrinsic protein (MIP) of lens, renamed aquaporin-0, has only recently joined the aquaporin family since initially it was not known to be a water-transporter. Aberrant expression of the aquaporin-0 gone has been demonstrated in mice with congenital cataract. Aquaporin-l, abundantly present in proximal nephron and descending Henle limbs, seems largely responsible for renal fluid reabsorption. Surprisingly, however, individuals who are homozygous for an aquaporin-1 mutation appeared to be healthy. Aquaporin-2 is the water channel which is inserted into the apical membrane of renal collecting duct cells in response to the antidiuretic hormone arginine vasopressin. In some patients with congenital nephrogenic diabetes insipidus, defects in the aquaporin-2 gone have been found, whereas a decrease in aquaporin-2 gone expression has been observed in patients with acquired nephrogenic diabetes insipidus. Natural mutants of aquaporin-3, -4 and -5 have not been reported. Aquaporin-3 and -4 water channels are thought to be involved in fluid transport across the basolateral membrane of collecting duct cells. In terms of clinical significance, the abundance and putative functions of aquaporin-4 in the brain are especially intriguing. Aquaporin-5 has not been detected in the kidney, but seems to play a role in the secretion of saliva, tears and pulmonary fluid.
    Article · Mar 1996
  • N Knoers · A F Van Lieburg · L A Monnens · [...] · C Van Os
    Article · Feb 1996 · Advances in nephrology from the Necker Hospital
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    A F van Lieburg · V.V.A.M. Knoers · R Mallmann · [...] · L.A.H. Monnens
    [Show abstract] [Hide abstract] ABSTRACT: Three patients with autosomal-recessive nephrogenic diabetes insipidus (NDI), homozygous for mutations in the aquaporin 2 gene (AQP2), were tested for their fibrinolytic and hemodynamic responses to intravenous administration of 1-desamino-8-D-arginine vasopressin (DDAVP). They all showed an increase of tissue-type plasminogen activator antigen, facial flushing, an increase of heart rate and a decrease of diastolic blood pressure. These results confirm the hypothesis that NDI patients with an AQP2 defect can be discriminated from NDI patients with a vasopressin type 2 receptor defect by their normal extrarenal responses to DDAVP.
    Full-text Article · Feb 1996 · Nephron
  • J.A. Hoekstra · A.F. van Lieburg · L.A.H. Monnens · [...] · V.V.A.M. Knoers
    [Show abstract] [Hide abstract] ABSTRACT: Mental retardation (MR) is generally considered one of the main complications of congenital nephrogenic diabetes insipidus (NDI). However, psychometric studies of NDI patients are scarce and outdated. In the present study, 17 male NDI patients underwent psychological evaluation. Total intelligence quotient of 14 patients was within (n = 13) or above (n = 1) the normal range, 1 patient had an intelligence score between -1 and -2 standard deviations (S.D.) and 2 young patients had a general cognitive index more than 2 S.D. below the norm. Attention deficit hyperactivity disorder criteria were met by 8 out of 17 patients and scores on short-term memory were low in 7 out of 10. No relation between test performances and age at diagnosis or hypernatremia could be found, with the exception of a negative correlation between age at start of therapy and verbal IQ in one age group. Although several explanations for an association between MR and NDI can be postulated, it seems that the current prevalence of MR among patients with this disease is considerably lower than suggested in literature.
    Article · Jan 1996 · American Journal of Medical Genetics
  • A. F. van Lieburg · V. V. A. M. Knoers · R. Mallmann · [...] · L. A. H. Monnens
    [Show abstract] [Hide abstract] ABSTRACT: Three patients with autosomal-recessive nephrogenic diabetes insipidus (NDI), homozygous for mutations in the aquaporin 2 gene (AQP2), were tested for their fibrinolytic and hemodynamic responses to intravenous administration of 1-desamino-8-D-arginine vasopressin (DDAVP). They all showed an increase of tissue-type plasminogen activator antigen, facial flushing, an increase of heart rate and a decrease of diastolic blood pressure. These results confirm the hypothesis that NDI patients with an AQP2 defect can be discriminated from NDI patients with a vasopressin type 2 receptor defect by their normal extrarenal responses to DDAVP.Copyright © 1996 S. Karger AG, Basel
    Article · Jan 1996 · Nephron
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    Angenita F. van Lieburg · Nine V.A.M. Knoers · Leo A.H. Monnens · Paul Smits
    [Show abstract] [Hide abstract] ABSTRACT: To assess which vasopressin receptor subtype mediates the vasodilation occurring in response to arginine vasopressin and 1-desamino-8-D (DD)-arginine vasopressin and whether nitric oxide is involved in these effects. Vasoactive effects of arginine vasopressin and DD-arginine vasopressin on forearm vasculature were studied in healthy subjects and in patients with congenital nephrogenic diabetes insipidus with a vasopressin type 2 (V2) receptor gene defect. Venous occlusion plethysmography was used to assess the forearm blood flow responses to the infusion of arginine vasopressin and its analogue into the brachial artery, in the presence and the absence of the nitric oxide synthase inhibitor L-NG-monomethyl-arginine (L-NMMA). In healthy subjects (n =10), DD-arginine vasopressin (0.1, 1 and 10 or 5, 10 and 20 ng/min per dl) induced a dose-related increase in forearm blood flow, but did not affect forearm blood flow in the patients with nephrogenic diabetes insipidus (n = 3). In two healthy subjects, seven increasing doses of arginine vasopressin (0.25-12 ng/min per dl) induced an initial decrease in forearm blood flow and then a gradual increase. In one of the patients, the same arginine vasopressin doses produced a persistent decrease in forearm blood flow. In the healthy subjects, infusion of L-NMMA reduced forearm blood flow significantly (n = 10). Subsequent administration of DD-arginine vasopressin during L-NMMA infusion produced a slight reduction in the forearm blood flow increase compared with DD-arginine vasopressin alone, but this was significant only for the absolute forearm blood flow increase induced by 10 ng/min per dl in all subjects. Infusion of arginine vasopressin in the presence of L-NMMA did not increase forearm blood flow significantly. In human forearm vasculature, extrarenal V2 receptors mediate the vasodilation induced by DD-arginine vasopressin or high doses of arginine vasopressin, whereas these receptors are not necessary for arginine vasopressin-induced vasoconstriction. The DD-arginine vasopressin-induced vasodilation seems to be mediated predominantly by a mechanism other than endothelial nitric oxide release, whereas arginine vasopressin-induced vasodilation seems to involve nitric oxide release only.
    Full-text Article · Jan 1996 · Journal of Hypertension
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    Angenita F. van Lieburg · Marian A. J. Verdijk · Frans Schoute · [...] · Nine V. A. M. Knoers
    [Show abstract] [Hide abstract] ABSTRACT: Nephrogenic diabetes insipidus (NDI) usually shows an X-linked recessive mode of inheritance caused by mutations in the vasopressin type 2 receptor gene (AVPR2). In the present study, three NDI families are described in which females show clinical features resembling the phenotype in males. Maximal urine osmolality in three female patients did not exceed 200 mosmol/kg and the absence of extra-renal responses to 1-desamino-8-D-arginine vasopressin was demonstrated in two of them. All affected females and two asymptomatic female family members were shown to be heterozygous for an AVPR2 mutation. Skewed X-inactivation is the most likely explanation for the clinical manifestation of NDI in female carriers of an AVPR2 mutation. It is concluded that, in female NDI patients, the possibility of heterozygosity for an AVPR2 gene mutation has to be considered in addition to homozygosity for mutations in the aquaporin 2 gene.
    Full-text Article · Aug 1995 · Human Genetics
  • Angenita F. van Lieburg · Nine V. A. M. Knoers · Peter M. T. Deen
    [Show abstract] [Hide abstract] ABSTRACT: Several membranes of the kidney are highly water permeable, thereby enabling this organ to retain large quantities of water. Recently, the molecular identification of water channels responsible for this high water permeability has finally been accomplished. At present, four distinct renal water channels have been identified, all members of the family of major intrinsic proteins. Aquaporin 1 (AQP1), aquaporin 2 (AQP2) and the mercury-insensitive water channel (MIWC) are water-selective channel proteins, whereas the fourth, referred to as aquaporin 3 (AQP3), permits transport of urea and glycerol as well. Furthermore, a putative renal water channel (WCH3) has been found. AQP1 is expressed in apical and basolateral membranes of proximal tubules and descending limbs of Henle, AQP2 predominantly in apical membranes of principal and inner medullary collecting duct cells and AQP3 in basolateral membranes of kidney collecting duct cells. MIWC is expressed in the inner medulla of the kidney and has been suggested to be localised in the vasa recta. The human genes encoding AQP1 and AQP2 have been cloned, permitting deduction of their amino acid sequence, prediction of their two-dimensional structure by hydropathy analysis, speculations on their way of functioning and DNA analysis in patients with diseases possibly caused by mutant aquaporins. Mutations in the AQP1 gene were recently detected in clinically normal individuals, a finding which contradicts the presumed vital importance of this protein. Mutations in the AQP2 gene were shown to cause autosomal recessive nephrogenic diabetes insipidus. The renal unresponsiveness to arginine vasopressin, which characterises this disease, is in accordance with the assumption that AQP2 is the effector protein of the renal vasopressin pathway.(ABSTRACT TRUNCATED AT 250 WORDS)
    Article · May 1995 · Pediatric Nephrology
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    A.F. van Lieburg · M C de Jong · A.J. Hoitsma · [...] · L.A.H. Monnens
    [Show abstract] [Hide abstract] ABSTRACT: Data concerning 100 consecutive renal transplantations in children were analyzed to determine factors enhancing the risk of renal transplant thrombosis. The incidence of renal transplant thrombosis was high, at 12%. It is concluded that in addition to young age and low body weight of recipient and young age of the donor, also a high preoperative urine production contributes to the occurrence of thrombosis. Children with hypoplastic or dysplastic kidneys are at greater risk for thrombosis. Considering the influence of high urine production of the native kidneys, it may be possible to prevent thrombosis by albumin and ample fluid administration.
    Full-text Article · May 1995 · Journal of Pediatric Surgery
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    A F van Lieburg · M.A.J. Verdijk · V.V.A.M. Knoers · [...] · P.M.T. Deen
    [Show abstract] [Hide abstract] ABSTRACT: Mutations in the X-chromosomal V2 receptor gene are known to cause nephrogenic diabetes insipidus (NDI). Besides the X-linked form, an autosomal mode of inheritance has been described. Recently, mutations in the autosomal gene coding for water-channel aquaporin 2 (AQP2) of the renal collecting duct were reported in an NDI patient. In the present study, missense mutations and a single nucleotide deletion in the aquaporin 2 gene of three NDI patients from consanguineous matings are described. Expression studies in Xenopus oocytes showed that the missense AQP2 proteins are nonfunctional. These results prove that mutations in the AQP2 gene cause autosomal recessive NDI.
    Full-text Article · Nov 1994 · The American Journal of Human Genetics
  • E.A.M. Cornelissen · A F van Lieburg · K Motohara · C G van Oostrom
    [Show abstract] [Hide abstract] ABSTRACT: Appearance of PIVKA-II (protein induced by vitamin K absence-II) in serum is a biochemical sign of insufficient vitamin K-dependent carboxylation of prothrombin. Plasma concentrations of PIVKA-II and vitamin K1 were determined in 24 children with cystic fibrosis. Eight were supplemented with vitamin K1. The purpose of the study was to determine the occurrence of vitamin K deficiency in cystic fibrosis and to evaluate the effect of vitamin K supplementation. PIVKA-II was detectable in only one unsupplemented child. In this patient, the concentration of vitamin K1 was below the limit of detection of 60 ng/l. Vitamin K1 levels in the other unsupplemented children were normal (mean 476 ng/l = 1 mmol/l). The supplemented patients showed extremely high levels of vitamin K1 (mean 22445 ng/l = 50 nmol/l). In conclusion, vitamin K deficiency occurs infrequently in cystic fibrosis. Checking the coagulation system is advised, but routine vitamin K supplementation is not recommended. If additional vitamin K is needed, the starting dose should not exceed 1 mg daily.
    Article · Oct 1992 · Acta Paediatrica
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    E.A.M. Cornelissen · A F van Lieburg · C G van Oostrom · L Monnens
    Full-text Article · Sep 1992 · Journal of Clinical Pathology