Congenital hypokalemia with hypercalciuria in preterm infants: A hyperprostaglandinuric tubular syndrome different from Bartter syndrome

Seyberth, Hannsjörg W.; Rascher, Wolfgang; Schweer, Horst; Kühl, Peter; Mehls, Otto; Schärer, K

doi:10.1016/s0022-3476(85)80395-4

Cited by 162 publications

(106 citation statements)

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“…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.…”

Section: Introductionmentioning

confidence: 99%

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

Jeck

Reinalter

Henne³

et al. 2001

Pediatrics

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: Introductionmentioning

confidence: 99%

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

Jeck

Reinalter

Henne³

et al. 2001

Pediatrics

107

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“…In the present case, however, we did not observe the abnormality when renal cholide reabsorption was examined by oral water loading. Norby et al (1976), Kurtz et al (1984) and Seyberth et al (1985) have also reported similar cases of Bartter's syndrome lacking an abnormality in the distal tubular function. As discussed in literatures (Kurtz et al 1984;Stein 1985), the variables of renal distal tubular function are influenced easily by the procedure adopted (i.e., oral water loading vs. intravenous saline infusion) or the volume as well as endocrine status of the patient.…”

Section: Discussionmentioning

confidence: 80%

A Case of Secondary Aldosteronism Similar to Bartter's Syndrome with No Abnormality in Renal Chloride Reabsorption.

Takeuchi

Imai

Omata

et al. 1993

Tohoku J. Exp. Med.

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We had a 20-year-old male patient of secondary aldosteronism similar to Bartter's syndrome, which had proved to be evident after the remission of nephrotic syndrome. In the patient, hypokalemic alkalosis and hyperreninemic hyperaldosteronemia were observed, although the blood pressure was normal. Hyperplasia of juxtaglomerular cells was observed and no abnormalities indicating either glomerulonephritis or renal artery stenosis were found; the pressor response to intravenously infused angiotensin (ang) II was markedly decreased ; urinary prostaglandin (PG) E2, kallikrein and kinin excretion were elevated. The inhibition of PG synthesis with indomethacin decreased renal PG production and partially corrected both hypokalemia and pressor responsiveness to ang II. Thus, this case is considered to be a case of Bartter's syndrome. Contrary to the previously reported observations, the effective fractional chloride reabsorption rate in the renal distal tubules was normal (>80%) and not changed by PG inhibition. Plasma atrial natriuretic peptide level was normal. An interaction between renin-angiotensin and PG systems appears to play a prior role in this case. To explain the pathophysiology, we have hypothesized an abnormal function of ang II receptor signal transduction which excessively stimulates PLA2, resulting in overproduction of PG synthesis in tissues.prostaglandin ; nephrotic syndrome ; angiotensin II receptor ; kallikrein-kinin system ; atrial natriuretic peptide Secondary aldosteronism refers to an appropriately increased production of adrenal aldosterone in response to activation of the renin-angiotensin (R-A) system, while primary aldosteronism is due to an adrenal adenoma autonomously secreting mineralocorticoids.Secondary aldosteronism, therefore, occurs in such a pathophysiologic condition as a decrease in effective plasma volume (i.e.,

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“…The two types of mutations lead to an impairment of transepithelial ion transport in the thick ascending limb of Henle's loop and have similar but not identical pathophysiological consequences. This renal disorder mimics long term furosemide treatment (24) and is characterized in the fetus by excessive saluresis and polyuria leading to polyhydramnios and premature birth. After birth, affected infants also suffer from the typical patterns of impaired tubular reabsorption in the thick ascending limb of Henle's loop (24,25).…”

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confidence: 99%

“…This renal disorder mimics long term furosemide treatment (24) and is characterized in the fetus by excessive saluresis and polyuria leading to polyhydramnios and premature birth. After birth, affected infants also suffer from the typical patterns of impaired tubular reabsorption in the thick ascending limb of Henle's loop (24,25). Characteristically, the strong stimulation of prostaglandin E 2 release re-sults in further aggravation of saluretic polyuria, secretory diarrhea, vomiting, mediation of fever, osteolysis, and failure to thrive (24).…”

mentioning

confidence: 99%

“…After birth, affected infants also suffer from the typical patterns of impaired tubular reabsorption in the thick ascending limb of Henle's loop (24,25). Characteristically, the strong stimulation of prostaglandin E 2 release re-sults in further aggravation of saluretic polyuria, secretory diarrhea, vomiting, mediation of fever, osteolysis, and failure to thrive (24). This renal disorder is inherited in an autosomal recessive manner and affects 1 in 50,000 -100,000 newborns (26).…”

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confidence: 99%

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A Hyperprostaglandin E Syndrome Mutation in Kir1.1 (Renal Outer Medullary Potassium) Channels Reveals a Crucial Residue for Channel Function in Kir1.3 Channels

Derst¹,

Wischmeyer²,

Preisig‐Müller³

et al. 1998

Journal of Biological Chemistry

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Loss of function mutations in kidney Kir1.1 (renal outer medullary potassium channel, KCNJ1) inwardly rectifying potassium channels can be found in patients suffering from hyperprostaglandin E syndrome (HPS), the antenatal form of Bartter syndrome. A novel mutation found in a sporadic case substitutes an asparagine by a positively charged lysine residue at amino acid position 124 in the extracellular M1-H5 linker region. When heterologously expressed in Xenopus oocytes and mammalian cells, current amplitudes from mutant Kir1.1a[N124K] channels were reduced by a factor of ϳ12 as compared with wild type. A lysine at the equivalent position is present in only one of the known Kir subunits, the newly identified Kir1.3, which is also poorly expressed in the recombinant system. When the lysine residue in guinea pig Kir1.3 (gpKir1.3) isolated from a genomic library was changed to an asparagine (reverse HPS mutation), mutant channels yielded macroscopic currents with amplitudes increased 6-fold. From single channel analysis it became apparent that the decrease in mutant Kir1.1 channels and the increase in mutant gpKir1.3 macroscopic currents were mainly due to the number of expressed functional channels. Coexpression experiments revealed a dominant-negative effect of Kir1. 3). From the primary subunit structure but also from the functional characteristics of the homomeric channels, a classification scheme of four main subfamilies emerged: strongly rectifying Kir2 channels (4 -6), 2 G protein-gated Kir3 channels (8 -10), and Kir6 subunits that associate with sulfonylurea receptors into ATP-sensitive K ATP channels (11, 12). Structural and functional evidence now argues that Kir1.1 (ROMK, KAB-1) and the channels previously termed Kir4 (BIRK1, BIR10, Kir4.1, KAB-2, Kir4.2) may be grouped into one subfamily termed Kir1 (2, 13, 14).Kir1.1 (ROMK) channels are moderately expressed in many tissues including brain and heart but are present predominantly in kidney (15). Several splice variants of Kir1.1 cDNA have been isolated that give rise to at least three protein isoforms termed Kir1.1a, b, and c (ROMK1-3). They differ in their N-terminal sequence (15) and are differentially expressed along the nephron in the rat kidney (16). Kir1.1 subunits have been reported to associate with other Kir subunits (13) and proteins such as the cystic fibrosis transmembrane regulator, a member of the superfamily of ABC transporters (17). In heterologous expression systems, Kir1.1 yields mildly inwardly rectifying potassium channels that are subject to regulation by phosphorylation (18), intracellular ATP (2), and pH (19).Kir1.1 channels are of particular functional importance in the kidney. The hyperprostaglandin E syndrome, a renal disorder resulting from impairment of tubular reabsorption, can be caused by either mutations in the furosemide-sensitive Na-K-2Cl cotransporter (NKCC2) or by mutations in Kir1.1 (20 -23). The two types of mutations lead to an impairment of transepithelial ion transport in the thick ascending limb of Henle's loop an...

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Congenital hypokalemia with hypercalciuria in preterm infants: A hyperprostaglandinuric tubular syndrome different from Bartter syndrome

Cited by 162 publications

References 30 publications

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

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

A Case of Secondary Aldosteronism Similar to Bartter's Syndrome with No Abnormality in Renal Chloride Reabsorption.

A Hyperprostaglandin E Syndrome Mutation in Kir1.1 (Renal Outer Medullary Potassium) Channels Reveals a Crucial Residue for Channel Function in Kir1.3 Channels

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