Prenatal and Postnatal Management of Hyperprostaglandin E Syndrome After Genetic Diagnosis  From Amniocytes

Konrad, Martin; Leonhardt, Andreas; Hensen, Peter; Seyberth, Hannsjörg W.; Köckerling, Arnold

doi:10.1542/peds.103.3.678

Cited by 56 publications

(38 citation statements)

References 27 publications

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“…3,10,11,34 Our patients, however, did not benefit significantly from indomethacin with respect to better growth. Six of 8 patients required supplementary calories by either gastrostomy feeding tube or long-term PPN to ensure that body weight increased at least to the low-normal limit.…”

Section: Neurologic Findingsmentioning

confidence: 55%

“…9,10 Recently, it was demonstrated that prenatal indomethacin treatment could stop additional progression of polyhydramnios, thereby preventing extreme prematurity. 11 The molecular basis of HPS/aBS is heterogeneous. Mutations in either the furosemide-sensitive Na-K2Cl cotransporter (NKCC2) 5,12 or the renal outermedullary potassium channel (ROMK) 4,13 have been found in the majority of HPS/aBS patients.…”

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confidence: 99%

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Hypokalemic Salt-Losing Tubulopathy With Chronic Renal Failure and Sensorineural Deafness

Jeck

Reinalter

Henne³

et al. 2001

Pediatrics

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107

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ABSTRACT.Objective. To characterize a rare inherited hypokalemic salt-losing tubulopathy with linkage to chromosome 1p31.Methods. We conducted a retrospective analysis of the clinical data for 7 patients in whom cosegregation of the disease with chromosome 1p31 had been demonstrated. In addition, in 1 kindred, prenatal diagnosis in the second child was established, allowing a prospective clinical evaluation.Results. Clinical presentation of the patients was homogeneous and included premature birth attributable to polyhydramnios, severe renal salt loss, normotensive hyperreninemia, hypokalemic alkalosis, and excessive hyperprostaglandin E-uria, which suggested the diagnosis of hyperprostaglandin E syndrome/antenatal Bartter syndrome. However, the response to indomethacin was only poor, accounting for a more severe variant of the disease. The patients invariably developed chronic renal failure. The majority had extreme growth retardation, and motor development was markedly delayed. In addition, all patients turned out to be deaf.Conclusion. The hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness represents not only genetically but also clinically a disease entity distinct from hyperprostaglandin E syndrome/antenatal Bartter syndrome. A pleiotropic effect of a single gene defect is most likely causative for syndromic hearing loss. Pediatrics 2001;108(1). URL: http:// www.pediatrics.org/cgi/content/full/108/1/e5; tubulopathy, Bartter syndrome, polyhydramnios, renal failure, syndromic deafness, pleiotropic gene.ABBREVIATIONS. HPS/aBS, hyperprostaglandin E syndrome/ antenatal Bartter syndrome; TAL, thick ascending limb of Henle's loop; PGE 2 , prostaglandin E 2 ; NKCC2, furosemide-sensitive Na-K-2Cl cotransporter; ROMK, renal outer-medullary potassium channel; SND, sensorineural deafness; GFR, glomerular filtration rate; BERA, brainstem-evoked response audiometry; PPN, partial parenteral nutrition. I nherited salt-losing tubulopathies with hypokalemic alkalosis involve an overlapping set of renal tubular disorders that can be subdivided into at least 3 phenotypes: 1) classic Bartter syndrome, 2) Gitelman syndrome, and 3) hyperprostaglandin E syndrome/antenatal Bartter syndrome (HPS/aBS). 1,2 Whereas patients with classic Bartter syndrome and Gitelman syndrome typically present in early infancy and childhood or adolescence, manifestation of HPS/aBS occurs in utero and the neonatal course is severe. 3 The first clinical sign is maternal polyhydramnios caused by fetal polyuria, which regularly results in premature birth between 28 and 34 weeks of gestation. 4,5 Postnatally, affected infants present with the typical pattern of impaired tubular reabsorption in the thick ascending limb of Henle's loop (TAL), including salt wasting, isosthenuric or hyposthenuric polyuria, and hypercalciuria with subsequent medullary nephrocalcinosis. 6 -8 Characteristically, endogenous formation of prostaglandin E 2 (PGE 2 ) is stimulated markedly, resulting in additional aggravation of saluretic polyuri...

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Section: Neurologic Findingsmentioning

confidence: 55%

mentioning

confidence: 99%

Hypokalemic Salt-Losing Tubulopathy With Chronic Renal Failure and Sensorineural Deafness

Jeck

Reinalter

Henne³

et al. 2001

Pediatrics

Self Cite

107

View full text Add to dashboard Cite

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“…Fetal poliüri, hidramniyoza yol açar, fazla sıvı da prematüre doğuma neden olur. Prenatal dönemde indometazin kullanımı; prematüre doğumu, polihidramniyozu ve aynı zamanda neonatal dönem-de nefrokalsinosis gelişimini de önler (15,16) . Yenidoğanda masif poliüri, hayatı tehdit eden sıvı kaybı atakları ve gelişme geriliği görülebilir (17) .…”

Section: Discussionunclassified

Two Rare Causes of the Polyhydramnios: Congenital diarrhea and Bartter Syndrome

Işık¹,

Günlemez²,

Akçay³

et al. 2015

IKSST

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“…Excessive PGE 2 activity may lead to severe water and electrolyte disorders, especially in premature babies. Clinically, infants with hyperprostaglandin E syndrome (HPS) are present with the typical pattern of impaired tubular reabsorption in the thick ascending limb of Henle's loop, including salt wasting, isosthenuric, or hyposthenuric polyuria, and hypercalciuria with subsequent nephrocalcinosis (9,27,37). Therefore, it is important to limit the content of PGE 2 in immature kidneys, which is likely accomplished by the high activity of renal 15-PGDH during the postnatal period.…”

Section: Discussionmentioning

confidence: 99%

Postnatal regulation of 15-hydroxyprostaglandin dehydrogenase in the rat kidney

Liu

Sun

Zhou

et al. 2014

American Journal of Physiology-Renal Physiology

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Cyclooxygenase 2 (COX-2) has an established role in postnatal kidney development. 15-Hydroxyprostaglandin dehydrogenase (15-PGDH) is recently identified as an endogenous inhibitor of COX-2, limiting the production of COX-2-derived prostanoids in several pathological conditions. The present study was undertaken to examine the regulation of renal 15-PGDH expression during postnatal kidney development in rats compared with COX-2. qRT-PCR and immunoblotting demonstrated that 15-PGDH mRNA and protein in the kidney were present in neonates, peaked in the second postnatal week, and then declined sharply to very low level in adulthood. Immunostaining demonstrated that at the second postnatal week, renal 15-PGDH protein was predominantly found in the proximal tubules stained positive for Na/H exchanger 3 and brush borders (periodic acid-Schiff), whereas COX-2 protein was restricted to macular densa and adjacent thick ascending limbs. Interestingly, in the fourth postnatal week, 15-PGDH protein was redistributed to thick ascending limbs stained positive for the Na-K-2Cl cotransporter. After 6 wk of age, 15-PGDH protein was found in the granules in subsets of the proximal tubules. Overall, these results support a possibility that 15-PGDH may regulate postnatal kidney development through interaction with COX-2.

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Prenatal and Postnatal Management of Hyperprostaglandin E Syndrome After Genetic Diagnosis From Amniocytes

Cited by 56 publications

References 27 publications

Hypokalemic Salt-Losing Tubulopathy With Chronic Renal Failure and Sensorineural Deafness

Hypokalemic Salt-Losing Tubulopathy With Chronic Renal Failure and Sensorineural Deafness

Two Rare Causes of the Polyhydramnios: Congenital diarrhea and Bartter Syndrome

Postnatal regulation of 15-hydroxyprostaglandin dehydrogenase in the rat kidney

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