Critical Points in the Management of Pseudohypoaldosteronism Type 1 - Case Report

Güran, Tülay; Değirmenci, Serpil; Bulut, İpek Kaplan; Say, A.; Riepe, Felix G.; Güran, Ömer

doi:10.4274/jcrpe.v3i2.20

Cited by 31 publications

(39 citation statements)

References 3 publications

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“…PEG is a valuable option for administering an appropriate amount of fluid, sodium, and potassium-binding resins [29-32]. Peritoneal dialysis may also sometimes be required to correct hyperkalemia [30, 33, 34]. Although our cases had extremely high potassium levels, all were successfully managed with no dialysis being required.…”

Section: Discussionmentioning

confidence: 94%

Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes

et al. 2019

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Objective: The systemic form of pseudohypoaldosteronism type 1 (PHA1) is an autosomal recessive disorder characterized by defective sodium transport in multi-organ systems. Mutations in the genes encoding the amiloride-sensitive epithelial sodium channel, ENaC, account for genetic causes of systemic PHA1. We describe systemic PHA1 due to 4 novel variants detected in SCNN1A and SCNN1B in 3 cases from 3 unrelated consanguineous families. Patients and Methods: We evaluated the clinical presentations, biochemical and hormonal characteristics, and molecular genetic analysis results of 3 patients from 3 unrelated consanguineous families and parents from whom samples were available. Results: The ages at presentation were postnatal days 9, 10, and 5. The main presentation symptoms were vomiting, poor feeding, weakness, weight loss, and skin rash. All patients exhibited laboratory characteristics including severe hyponatremia, hyperkalemia, metabolic acidosis, elevated plasma renin, elevated aldosterone, and positive sweat tests, suggesting a diagnosis of systemic PHA1. Molecular genetic analysis revealed 2 novel pathogenic variants [c.87C>A(p.Tyr29*)/IVS9 + 1G>A (c.1346 + 1G>A)] in SCNN1Bin case 1, a novel homozygous pathogenic variant [p.His69Arg(c.206A>G] in SCNN1Ain case 2, and a homozygous one-base duplication, p.A200Gfs*6 (c.598dupG), in SCNN1A in case 3. Conclusion: PHA1 should be considered at differential diagnosis in patients presenting with hyponatremia, hyperkalemia, and metabolic acidosis. The cases in this report involving 4 novel variants will add valuable insights into the phenotype-genotype relationship and will expand the mutation database.

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Section: Discussionmentioning

confidence: 94%

Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes

et al. 2019

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“…Pri primarnem PHA1 ločimo avtosomno-dominantno dedno obliko, pri kateri je dokazana mutacija gena za mineralokortikoidne receptorje v ledvicah, in avtosomno-recesivno, pri kateri je spremenjen gen za epitelni natrijev kanalček (ENaC) in so prizadeti tudi drugi organi (6)(7)(8).…”

Section: Uvodunclassified

“…Z zdravljenjem osnovne bolezni težave navadno prenehajo (8)(9)(10). Vzrok za sekundarno obliko PHA 1 ni povsem pojasnjen.…”

Section: Uvodunclassified

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Sekundarni psevdohipoaldosteronizem pri novorojenčku z akutnim vnetjem sečil – Prikaz primera

2017

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IzvlečekHiponatremija in hiperkaliemija lahko pomenita pri novorojenčku življenje ogrožujoče stanje, pri katerem največkrat pomislimo na bolezni nadledvične žleze, zlasti na prirojeno hiperplazijo. Redkejše pa so motnje v odzivnosti ledvičnih celic na aldosteron, kar imenujemo psevdohipoaldosteronizem. Sekundarni psevdohipoaldosteronizem je malokrat opisana, prehodna motnja v elektrolitskem ravnovesju, ki nastane zaradi neodzivnosti tubularnih celic na aldosteron pri novorojenčku in malem dojenčku s prirojenimi okvarami sečil in/ali hudim vnetjem.V članku predstavljamo primer 4-tedenskega novorojenčka s hudo dehidracijo, hiponatremijo in hiperkaliemijo ter povišanimi vrednostmi aldosterona ob prebolevanju akutnega pielonefritisa. Otrok ni imel značilnih kliničnih znakov za okužbo sečil. Po nadomeščanju tekočin, elektrolitov in zdravljenju okužbe, se mu je stanje povsem popravilo. S kasnejšimi slikovnimi preiskavami razvojnih nepravilnosti sečil nismo dokazali. Glede na potek bolezni in podatke iz literature sklepamo, da je elektrolitsko neravnovesje povzročila prehodna rezistentnost vnetih celic distalnega tubula na aldosteron. AbstractHiponatremia and hyperkalemia in a newborn can be a life threatening disorder caused by different diseases, including congenital adrenal hyperplasia, or less freqently by a genetical or acquired tubular cell resistance to aldosteron, called pseudohypoaldosteronism. Secondary pseudohypoaldosteronism is a rare, reversible electrolyte disorder caused by aldosterone resistance in infants with congenital urinary tract malformations and/or urinary tract infection.We present a 4-week-old boy with severe hyponatremia, hyperkalemia and elevated aldosterone levels during an episode of pyelonephritis. The disorder improved completely with antibiotic treatment, rehydration and electrolyte correction. Further investigations showed no structural urinary tract anomalies. According to the literature, we concluded that electrolyte disturbances were caused by aldosterone resistance of the inflamed tubular cels and subsequent defective transepithelial sodium transport. UvodAldosteron je steroidni hormon nadledvične žleze, ki primarno deluje na celice v zbiralnem tubulu ledvic. Preko sistema renin-angiotenzin-aldosteron

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“…In addition, respiratory tract infections associated with PHA1 may be mistaken for symptoms of cystic fibrosis [7]. Such confusion delays diagnosis when prompt treatment of PHA1 is essential, as death may occur as a result of salt depletion and high blood potassium level [8].…”

Section: Introductionmentioning

confidence: 99%

Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1

Wang

Yin

et al. 2013

PLoS ONE

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Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by resistance to the actions of aldosterone. Mutations in the subunit genes (SCNN1A, SCNN1B, SCNN1G) of the epithelial sodium channel (ENaC) and the NR3C2 gene encoding the mineralocorticoid receptor, result in systemic PHA1 and renal PHA1 respectively. Common clinical manifestations of PHA1 include salt wasting, hyperkalaemia, metabolic acidosis and elevated plasma aldosterone levels in the neonatal period. In this study, we describe the clinical and biochemical manifestations in two Chinese patients with systemic PHA1. Sequence analysis of the SCNN1A gene revealed a compound heterozygous mutation (c.1311delG and c.1439+1G>C) in one patient and a homozygous mutation (c.814_815insG) in another patient, all three variants are novel. Further analysis of the splicing pattern in a minigene construct showed that the c.1439+1G>C mutation can lead to the retainment of intron 9 as the 5′-donor splice site disappears during post-transcriptional processing of mRNA. In conclusion, our study identified three novel SCNN1A gene mutations in two Chinese patients with systemic PHA1.

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Critical Points in the Management of Pseudohypoaldosteronism Type 1 - Case Report

Cited by 31 publications

References 3 publications

Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in <b><i>SCNN1A</i></b>and <b><i>SCNN1B</i></b>Genes

Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in <b><i>SCNN1A</i></b>and <b><i>SCNN1B</i></b>Genes

Sekundarni psevdohipoaldosteronizem pri novorojenčku z akutnim vnetjem sečil – Prikaz primera

Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1

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