Renal tubular acidosis type 4 in pregnancy

Jakes, Adam D; Baynes, Kevin; Nelson‐Piercy, Catherine

doi:10.1136/bcr-2016-214798

Cited by 6 publications

(5 citation statements)

References 4 publications

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“…There are only a few reports describing the clinical course and management of GS during pregnancy [17,[20][21][22][23][24][25], where reports of preeclampsia in pregnant women with GS are so exceptional. As occurred in our patients (cases III-1 and III-8), pregnancy complicated with superimposed preeclampsia may complicate the hyperkalemia and acidosis of GS possibly due, at least in part, to increased serum progesterone concentrations with the progression of pregnancy, resulting in an anti-aldosterone effect.…”

Section: Discussionmentioning

confidence: 99%

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1

Peces,

Espinosa

et al. 2023

Genes

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(1) Background: Gordon syndrome (GS) or familial hyperkalemic hypertension is caused by pathogenic variants in the genes WNK1, WNK4, KLHL3, and CUL3. Patients presented with hypertension, hyperkalemia despite average glomerular filtration rate, hyperchloremic metabolic acidosis, and suppressed plasma renin (PR) activity with normal plasma aldosterone (PA) and sometimes failure to thrive. GS is a heterogeneous genetic syndrome, ranging from severe cases in childhood to mild and sometimes asymptomatic cases in mid-adulthood. (2) Methods: We report here a sizeable Spanish family of six patients (four adults and two children) with GS. (3) Results: They carry a novel heterozygous missense variant in exon 7 of WNK1 (p.Glu630Gly). The clinical presentation in the four adults consisted of hypertension (superimposed pre-eclampsia in two cases), hyperkalemia, short stature with low body weight, and isolated hyperkalemia in both children. All patients also presented mild hyperchloremic metabolic acidosis and low PR activity with normal PA levels. Abnormal laboratory findings and hypertension were normalized by dietary salt restriction and low doses of thiazide or indapamide retard. (4) Conclusions: This is the first Spanish family with GS with a novel heterozygous missense variant in WNK1 (p.Glu630Gly) in the region containing the highly conserved acidic motif, which is showing a relatively mild phenotype, and adults diagnosed in mild adulthood. These data support the importance of missense variants in the WNK1 acidic domain in electrolyte balance/metabolism. In addition, findings in this family also suggest that indapamide retard or thiazide may be an adequate long-standing treatment for GS.

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Section: Discussionmentioning

confidence: 99%

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1

Peces,

Espinosa

et al. 2023

Genes

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“…Previously 13 pregnancies in 7 women with Gordon's syndrome have been described in the literature [11][12][13][14][15][16][17] (Table 1). These were combined with the 11 pregnancies in the 3 women in this series and the outcomes reviewed.…”

Section: Discussionmentioning

confidence: 99%

Gordon's syndrome in pregnancy

Morton

2022

Obstet Med

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Gordon's syndrome, also known as pseudohypoaldosteronism type II and familial hyperkalaemic hypertension, is a rare inherited condition characterised by familial hyperkalaemia, normal anion gap hyperchloraemic metabolic acidosis, low renin with normal glomerular filtration rate and hypertension. The outcome of 11 pregnancies in 3 women with Gordon's syndrome is presented and combined with 13 pregnancies in 7 women previously described. Pregnancy in women with Gordon's syndrome appears to be associated with a significant risk of adverse pregnancy outcomes, particularly where there is maternal hypertension preconception. No pregnancy registry exists for Gordon's syndrome. The available data is limited to case reports and small case series and may be affected by bias. A pregnancy registry would be valuable to assist in preconception counselling and management during pregnancy. The goal of this study was to summarise the available cases describing pregnancy outcomes with maternal Gordon's syndrome.

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“…Pregnancy-specific causes include case reports of hyperkalaemia due to labetalol therapy, following magnesium sulphate infusion, and type 4 renal tubular acidosis related to diabetic kidney disease which may worsen through pregnancy. [55][56][57][58]…”

Section: Potassiummentioning

confidence: 99%

Changes in biochemical tests in pregnancy and their clinical significance

Teasdale

Morton

2018

Obstet Med

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Interpretation of laboratory investigations relies on reference intervals. Physiological changes in pregnancy may result in significant changes in normal values for many biochemical assays, and as such results may be misinterpreted as abnormal or mask a pathological state. The aims of this review are as follows: 1. To review the major physiological changes in biochemical tests in normal pregnancy. 2. To outline where these physiological changes are important in interpreting laboratory investigations in pregnancy. 3. To document the most common causes of abnormalities in biochemical tests in pregnancy, as well as important pregnancy-specific causes.

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Renal tubular acidosis type 4 in pregnancy

Cited by 6 publications

References 4 publications

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1

Gordon's syndrome in pregnancy

Changes in biochemical tests in pregnancy and their clinical significance

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