Pregnancy in Alport syndrome: A report of two differently-evolving cases

Alessi, Marianna; Fabris, Alberta; Zambon, A.; Cremasco, Daniela; Muraro, Eva; Dosa, Laura; Anglani, Franca; Prete, Dorella Del

doi:10.3109/01443615.2013.834299

Cited by 15 publications

(15 citation statements)

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“…Still, the report by Matsubara showed that umbilical cord of a newborn from a mother with Alport had negative immunofluorescence staining for the alpha 5 chain of type IV collagen. A good pregnancy outcome is reported by Matsoubara [ 11 , 12 ] and Alessi [ 13 ]. Recent expert guidelines on Alport syndrome state that ACEI should be used between pregnancies because they are nephroprotective and that they would be beneficial for proteinuria, and other risk factors for renal failure progression in patients with Alport syndrome [ 14 ].…”

Section: Discussionmentioning

confidence: 86%

“…Matsuo described a case with higher proteinuria (1-2 g/d) and higher serum creatinine from the start of the pregnancy, which evolved into preeclampsia and worsened kidney function [ 9 ]. He speculated that preeclampsia is more frequent in women with Alport syndrome because type 4 collagen can be found in placental and renal vessels and in the case of a mutation in both sites, destruction may occur and a common antigen may be involved [ 10 ]. Still, the report by Matsubara showed that umbilical cord of a newborn from a mother with Alport had negative immunofluorescence staining for the alpha 5 chain of type IV collagen.…”

Section: Discussionmentioning

confidence: 99%

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Two Pregnancies with a Different Outcome in a Patient with Alport Syndrome

Kitanovska¹,

Gerasimovska²,

Livrinova³

2016

Open Access Maced J Med Sci

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BACKGROUND:Alport syndrome is a genetic disease that progresses to chronic kidney failure, with X-linked, autosomal dominant or autosomal recessive type of inheritance. Women are generally carriers of the mutation and have a milder form of the disease. During pregnancy, they have an increased risk of impaired kidney function and preeclampsia.CASE PRESENTATION:A 27-year old woman, gravida 1, para 0, in her 23rd gestational week came to the outpatient unit of the University Clinic of Nephrology for the first time because of slowly progressing proteinuria and Alport syndrome. She was admitted to the gynaecological ward in her 29th gw for proteinuria which increased from 3.8 g/day up to 20 g/day and the serum creatinine increased to 120- 150 micromol/l. She was delivered in the 30th gestational week due to obstetrical indications with a cesarian section and delivered a baby with a birth weight of 880 g. After delivery, proteinuria decreased to 2 g/d within 2 months and an angiotensin-converting enzyme inhibitor (ACEI) was started. Her second pregnancy, after 2 years, had an uneventful course and she delivered a healthy baby weighing 3000 g in the 39th week. Six months after the second delivery, her renal function remained normal and her proteinuria was 2 g/d.CONCLUSIONS:Pre-pregnancy counselling and frequent controls during pregnancy are necessary for women with Alport syndrome, as well as regular monitoring after delivery. Recent reports are more in favour of good pregnancy and nephrological outcomes in women with Alport syndrome when renal disease is not advanced.

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Section: Discussionmentioning

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Two Pregnancies with a Different Outcome in a Patient with Alport Syndrome

Kitanovska¹,

Gerasimovska²,

Livrinova³

2016

Open Access Maced J Med Sci

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“…Moreover, AS patients showing signs of renal function deterioration are more likely to develop fetal complications such as preterm delivery 18 and/or intrauterine gestational restriction (IUGR) 19 . However, the entity of proteinuria, in women with preeclampsia, is not always able to predict maternal or fetal outcomes 20 ; indeed, cases of successful pregnancy with delivery of a healthy baby are also described in literature 21‐25 …”

Section: Discussionmentioning

confidence: 99%

Renal impairment in Alport syndrome pregnant woman: Case report and review of the literature

Pepe¹,

Guardo

Zambrotta

et al. 2020

Clinical Case Reports

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“…332 Only 19 pregnancies in 12 COL4A3-5 women have been reported in the literature, mainly case reports. [338][339][340][341][342][343][344][345][346][347] Of those pregnancies, 55% were complicated by preterm delivery, 26% by pre-eclampsia and the median birthweight was 2400 grams. [338][339][340][341][342][343][344][345][346][347] There was a CKD stage shift in 43%.…”

Section: Introductionmentioning

confidence: 99%

“…[338][339][340][341][342][343][344][345][346][347] Of those pregnancies, 55% were complicated by preterm delivery, 26% by pre-eclampsia and the median birthweight was 2400 grams. [338][339][340][341][342][343][344][345][346][347] There was a CKD stage shift in 43%. [338][339][340][341][342][343][344][345][346][347] Due to a probable reporting and…”

Section: Introductionmentioning

confidence: 99%

Renal genetics in transition

Snoek¹

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In chronic kidney disease (CKD) the kidneys lose their ability to filter, reabsorb and secrete water, electrolytes and other small molecules from the blood into the urine, and keep larger molecules such as proteins in. 1 The prevalence of CKD is estimated to be 10-13%, and continually increasing. [2][3][4] Disease burden is high in CKD, as it is associated with increased risks of cardiovascular morbidity, premature mortality and decreased quality of life. [2][3][4] CKD is defined by decreased glomerular filtration rate (GFR) or the amount of protein lost in the urine (proteinuria), for at least 3 months. [5][6][7][8] GFR and degree of proteinuria are also used to determine the severity of renal disease, from mild disease in stage 1 to end-stage renal disease (ESRD) in stage 5. 5,[9][10][11] In ESRD the kidneys are failing, requiring renal replacement therapy in the form of dialysis or a renal transplant. 5,[9][10][11] Underlying causes of CKDThe criteria to stage CKD are based on laboratory findings, and do not depend on nor characterize the underlying cause for the renal disease. [5][6][7][8] Nevertheless, identifying the underlying cause is essential, because it gives information regarding the prognosis and can influence treatment decisions (addressed in detail below).To identify the underlying cause, the tools routinely used are blood and urine investigations, renal ultrasounds or computed tomography, and invasive renal biopsies. [5][6][7][8][12][13][14] However, accurately determining the underlying cause in a specific patient can prove difficult. This is because CKD can be caused by many different disorders that often have indistinguishable clinical features. The type of diseases that cause CKD range from highly prevalent diseases such as diabetes and hypertension, to less prevalent conditions like IgA nephropathy and finally to very rare disorders, for example Fabry disease. 1,15,16 Monogenic renal diseasesInterestingly, the very rare causes of CKD are often monogenic kidney diseases (MGKD). MGKD are the result of mutations in genes encoding proteins essential for renal structure or function. 17 Also called Mendelian diseases, after their discoverer Gregor Mendel (1822-1884), monogenic diseases are caused by defects in a single gene. 18,19 The defect can be in one autosomal allele (autosomal dominant disease), two autosomal alleles (autosomal recessive disease), or it can be in a gene on the X or Y chromosome (sex linked disease). 18,19 12 Chapter 1 Figure 1.1 | The process of gene panel testing for renal disease: gene panel design with the use of next-generation sequencing techniques, variant calling, and interpretation, as well as the infl uence of phenotyping and segregation analysis in variant interpretation and translating the result back to the individual patient.Defi nite calling of pathogenicity is impossible however, if a variant is detected in a gene that has not previously been associated with the patient's phenotype. 19,39 In those cases, in vitro or in vivo functional studies can be performed...

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Pregnancy in Alport syndrome: A report of two differently-evolving cases

Cited by 15 publications

References 8 publications

Two Pregnancies with a Different Outcome in a Patient with Alport Syndrome

Two Pregnancies with a Different Outcome in a Patient with Alport Syndrome

Renal impairment in Alport syndrome pregnant woman: Case report and review of the literature

Renal genetics in transition

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