Diagnosis and outpatient management of Gitelman syndrome from the first trimester of pregnancy

2021 ◽  
Vol 14 (5) ◽  
pp. e241756
Author(s):  
Marie Lim ◽  
David Gannon

A 32-year-old woman presented with an incidental finding of hypokalaemia on routine bloods at 9 weeks of a second pregnancy, on a background of lifelong salt craving. Her previous pregnancy was uncomplicated. She had no previous significant medical or family history. Venous blood gases showed a hypokalaemic, normochloraemic metabolic alkalosis. Urinary potassium was elevated. Escalating doses of oral supplementation of potassium, magnesium, sodium and potassium-sparing diuretics were required through the course of pregnancy, in response to regular electrolyte monitoring. These were later weaned and completely stopped post partum. Delivery was uneventful with no maternal or neonatal complications. Genetic testing performed post partum showed heterogenous mutation of SCL12A3 gene.

2019 ◽  
Vol 47 ◽  
Author(s):  
Mariana Andrade Mousquer ◽  
Vitória Müller ◽  
Fernanda Maria Pazinato ◽  
Bruna Dos Santos Suñe Moraes ◽  
Leandro Américo Rafael ◽  
...  

Background: Wry nose is a congenital deformity that causes respiratory obstruction and decreased oxygenation rate. Gestation in a wry nose mare may be considered a risk to the neonate since it depends on the maternal environment for development. Compromised oxygenation during pregnancy can lead to fetal distress and cause consequences on fetal development. However, depending on the degree of the impairment, the fetus may still be able to adapt. The aim of the present study was to report the gestation in a mare with facial deviation until term and to assess blood gases in the mare and neonate, and to evaluate the histomorphometry of the placenta.Case: A Criollo breed mare presenting facial deviation (Wry Nose) was donated to Equine Medicine Research Group (ClinEq) of the Federal University of Pelotas (UFPel) due to the presence of the physical deformity. When the mare was five years old, it was inseminated and had a pregnancy confirmed. At the fifth month of gestation, evaluation of fetal aorta diameter, fetal orbital diameter and combined thickness of the uterus and placenta (CTUP) started to be performed monthly to assess gestation health. The assessment of the fetal orbit and aorta diameter revealed a linear increase of both variables with the progress of gestation indicating a normal fetal development.  CTUP remained in the normal reference range, presenting no alterations during the gestational length. The mare foaled at 324 days of gestation a coat showing no congenital deformities. The foaling was monitored until the complete passage of fetal membranes. A complete clinical and hematological evaluation of the foal was carried out after birth. The foal showed normal adaptive behavior, clinical and hematological parameters during the first hours of life, although presenting physical signs of immaturity. Venous blood samples were collected from the mare at 315 days of gestation, immediately after foaling and 24 h post-partum for lactate and blood gas analysis.  Mild changes were observed in the mare’s blood gas analysis at foaling that were compensated within 24 h post-partum. Venous blood samples were collected from the umbilical cord and from the foal after birth, at 12 and 24 h post-partum to measure blood gases and lactate. The newborn foal presented respiratory acidosis immediately after birth, which was metabolically compensated at 24 h post-partum. Both mare’s and foal’s lactate evaluation were within the normal reference ranges. After expulsion of the placenta, samples from the gravid horn, uterine body and non-gravid horn were collected for histological and histomorphometric evaluation. In the histological evaluation, avillous areas were detected in the gravid horn and uterine body and mild hypoplasia was found in the uterine body. Placental histomorphometry revealed larger total microcotiledonary and capillary areas on the non-gravid horn when compared to the remaining areas of the placenta (gravid horn and uterine body). No abnormalities on the placental vasculature were detected.  Discussion: To date, there are no reports of a pregnancy in a mare with facial deviation in the literature. This report showed that the wry nose mare gave birth to a viable foal showing no congenital abnormalities, which suggests that wry nose animals can be bred normally. The mare presented a healthy pregnancy, with mild changes in the blood gas analysis at foaling that were compensated at 24 h postpartum. Similarly, despite the foal showed physical signs of immaturity and respiratory acidosis at birth, these changes were compensated in the later assessments. Furthermore, no abnormalities on the placental vasculature were detected.


Author(s):  
Luisa Mari ◽  
Fabio Placidi ◽  
Andrea Romigi ◽  
Mario Tombini ◽  
Chiara Del Bianco ◽  
...  

Abstract Objective Epilepsy treatment during pregnancy is still challenging. The study is aimed at comparing the efficacy and safety of carbamazepine (CBZ), lamotrigine (LTG) and levetiracetam (LEV) monotherapies during pregnancy in women with focal (FE) or generalized (GE) epilepsy. Methods A multicentre retrospective study was conducted to evaluate seizures frequency and seizure freedom (SF) rate during 3 months before pregnancy, each trimester of gestation and post-partum period in women on monotherapy with CBZ, LTG and LEV. Results Fifty-seven pregnancies (45 FE, 12 GE) on monotherapy (29 CBZ, 11 LTG, 17 LEV) were included. A significant reduction of seizure frequency was found in the first trimester of pregnancy as compared with that one before pregnancy (p = 0.004), more evident in GE (p = 0.003) and in LEV group (p = 0.004). The SF rate significantly increased in the first trimester in comparison to that one before pregnancy and persisted in the post-partum period in the whole sample (p < 0.001) and in women on LEV (p = 0.004). Besides, 88.57% of SF women before pregnancy remained unchanged during gestation and the post-partum period. One major heart malformation in CBZ and no major malformations in LTG and LEV groups were found. Conclusions A better clinical outcome during pregnancy emerged since the first trimester in comparison to the before-pregnancy period, mostly evident in women with GE and LEV therapy, reinforcing the hypothesis of a protective role of pregnancy versus seizures. SF before pregnancy represents a significant predictive factor of good clinical outcome during gestation and the post-partum period. Compared to CBZ, LTG and LEV showed a better safety profile.


2009 ◽  
Vol 105 (1) ◽  
pp. 46-49 ◽  
Author(s):  
Fenling Fan ◽  
Yuliang Zou ◽  
Aiqun Ma ◽  
Yafei Yue ◽  
Wenjun Mao ◽  
...  

Author(s):  
Anna Stepowicz ◽  
Barbara Wencka ◽  
Jan Bieńkiewicz ◽  
Wojciech Horzelski ◽  
Mariusz Grzesiak

The aim of this study was to analyze stress and anxiety levels experienced by pregnant and post-partum women during the COVID-19 pandemic, as well as to indicate the social and medical factors that could contribute to stress and anxiety. A total of 210 patients were enrolled in the study. Two well-established test-tools were applied: State-Trait Anxiety Inventory (STAI) and Perceived Stress Scale (PSS-10). The study revealed that the levels of stress and anxiety experienced by the surveyed patients were moderate to high. We demonstrated that women with mental treatment history, those in the first trimester of pregnancy and the ones that are single or in an informal relationship tend to experience higher levels of psychological distress and anxiety. Such factors as age, education, parity, eventful obstetric history, comorbidities, and the number of hospital stays proved to be statistically insignificant in the analysis. Our findings could be used to identify patients at greater risk of experiencing adverse mental effects and to provide them with adequate psychological support. Further multi-center studies are warranted in order to draw final conclusions.


2013 ◽  
Vol 12 (2) ◽  
pp. 164-171
Author(s):  
Nishat Un Nahar ◽  
Zeba Un Naher ◽  
Md. Ashanul Habib ◽  
Forhadul Hoque Mollah

Introduction: Maternal thyroid dysfunction during pregnancy has been associated with a number of adverse outcomes, like preterm birth, placental abruption, foetal death and impaired neurological development in the child. Simultaneously the presence of antibody to thyroid peroxidase results miscarriage, preterm birth and maternal post partum thyroid disease. Post partum thyroiditis is closely associated with the presence of antibodies to thyroid peroxidase (TPO). Indeed if a pregnant woman is positive for TPO antibodies early in pregnancy, her chances of developing post partum thyroiditis is 30-52%. Objective: To find out the level of TPO-Ab and thyroid status in first trimester of pregnancy. Method: The cross sectional study was designed in Department of Biochemistry, BSMMU, Dhaka. Following inclusion and exclusion criteria 200 sample was selected by purposive and convenient sampling. The study parameters were- thyroid peroxidase antibody (TPO-Ab); serum thyroid stimulating hormone (TSH); serum free thyroxin (FT4). Results: 43 (21.5%) pregnant women of first trimester was found to be TPO-Ab positive, among these 43 subjects 16 (8.0%) had raised TSH i.e. >2.5 mIU/L and 27 had TSH level <2.5 mIU/L. Low serum FT4 was in 9 (4.5%) subjects. The study revealed that, there was a significant positive correlation between positive TPO-Ab (>12 IU/mL) and serum TSH level of study subjects and there was negative correlation between serum TSH (>2.5 mIU/L) and serum FT4 in study subjects. Conclusion: TPO-Ab positivity in first trimester of pregnancy and TPOAb positivity was associated with higher TSH and low FT4 level. Bangladesh Journal of Medical Science Vol. 12 No. 02 April’13 Page 164-170 DOI: http://dx.doi.org/10.3329/bjms.v12i2.14945


1962 ◽  
Vol 41 (1) ◽  
pp. 123-128 ◽  
Author(s):  
Pentti A. Järvinen ◽  
Sykkö Pesonen ◽  
Pirkko Väänänen

ABSTRACT The fractional determination of 17-ketosteroids in the daily urine was performed in nine cases of hyperemesis gravidarum and in four control cases, in the first trimester of pregnancy both before and after corticotrophin administration. The excretion of total 17-KS is similar in the two groups. Only in the hyperemesis group does the excretion of total 17-KS increase significantly after corticotrophin administration. The fractional determination reveals no difference between the two groups of patients with regard to the values of the fractions U (unidentified 17-KS), A (androsterone) and Rest (11-oxygenated 17-KS). The excretion of dehydroepiandrosterone is significantly higher in the hyperemesis group than in the control group. The excretion of androstanolone seems to be lower in the hyperemesis group than in the control group, but the difference is not statistically significant. The differences in the correlation between dehydroepiandrosterone and androstanolone in the two groups is significant. The high excretion of dehydroepiandrosterone and low excretion of androstanolone in cases of hyperemesis gravidarum is a sign of adrenal dysfunction.


2018 ◽  
Author(s):  
Berta Soldevila ◽  
Marta Hernandez ◽  
Carolina Lopez ◽  
Laura Cacenarro ◽  
Maria Martinez-Barahona ◽  
...  

2018 ◽  
Author(s):  
Beatriz Torres Moreno ◽  
Gabriela Castillo Carvajal ◽  
Lucrecia Vegara Fernandez ◽  
del Val Teresa Lopez ◽  
Victoria Alcazar Lazaro ◽  
...  

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