Pregnancy, delivery and puerperium in a patient with lysinuric protein intolerance – a case report

Domański, Maciej; Konstanty-Kurkiewicz, Violetta; Rzepka, Rafał; Rokicki, Dariusz; Giżewska, Maria; Michalczyk, Michał; Kwiatkowski, Sebastian; Torbé, Andrzej; Mikołajek-Bedner, Wioletta; Czajka, Ryszard

doi:10.17772/gp/1621

Cited by 4 publications

(3 citation statements)

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“…Overall, several clinical manifestations of LPI where immune-related and these include positivity to various autoantibodies in six patients (4%) and SLE-like disease in 3% of reviewed cases including this report, all of whom showed positive ANA autoantibodies among others that were also present ( 23 , 46 , 55 , 64 , 73 ) while immune complex mediated glomerulonephritis was seen in 4% of patients. Cytopenias were also a frequent finding with anemia being the most common finding in 29% of patients, leucopenia was seen in 11% and thrombocytopenia in 18%.…”

Section: Resultsmentioning

confidence: 64%

“…Three pregnant patients were also reported ( 23 , 46 , 64 ). Symptoms appearing during pregnancy consisted mainly of anemia and thrombocytopenia, although proteinuria was observed in one case.…”

Section: Resultsmentioning

confidence: 99%

“…Symptoms appearing during pregnancy consisted mainly of anemia and thrombocytopenia, although proteinuria was observed in one case. Pregnancy in women with LPI can be associated with increased risk of complications including hyperammonemia, preeclampsia, intrauterine growth restriction and post-partum hemorrhage requiring close monitoring ( 64 ).…”

Section: Resultsmentioning

confidence: 99%

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Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

et al. 2021

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Lysinuric protein intolerance (LPI) is an inborn error of metabolism caused by defective transport of cationic amino acids in epithelial cells of intestines, kidneys and other tissues as well as non-epithelial cells including macrophages. LPI is caused by biallelic, pathogenic variants in SLC7A7. The clinical phenotype of LPI includes failure to thrive and multi-system disease including hematologic, neurologic, pulmonary and renal manifestations. Individual presentations are extremely variable, often leading to misdiagnosis or delayed diagnosis. Here we describe a patient that clinically presented with immune dysregulation in the setting of early-onset systemic lupus erythematosus (SLE), including renal involvement, in whom an LPI diagnosis was suspected post-mortem based on exome sequencing analysis. A review of the literature was performed to provide an overview of the clinical spectrum and immune mechanisms involved in this disease. The precise mechanism by which ineffective amino acid transport triggers systemic inflammatory features is not yet understood. However, LPI should be considered in the differential diagnosis of early-onset SLE, particularly in the absence of response to immunosuppressive therapy.

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Section: Resultsmentioning

confidence: 64%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

et al. 2021

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Impact of pregnancy on inborn errors of metabolism

Wilcox

2018

Rev Endocr Metab Disord

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Once based mainly in paediatrics, inborn errors of metabolism (IEM), or inherited metabolic disorders (IMD) represent a growing adult medicine specialty. Individually rare these conditions have currently, a collective estimated prevalence of >1:800. Diagnosis has improved through expanded newborn screening programs, identification of potentially affected family members and greater awareness of symptomatic presentations in adolescence and in adulthood. Better survival and reduced mortality from previously lethal and debilitating conditions means greater numbers transition to adulthood. Pregnancy, once contraindicated for many, may represent a challenging but successful outcome. Successful pregnancies are now reported in a wide range of IEM. Significant challenges remain, given the biological stresses of pregnancy, parturition and the puerperium. Known diagnoses allow preventive and pre-emptive management. Unrecognized metabolic disorders especially, remain a preventable cause of maternal and neonatal mortality and morbidity. Increased awareness of these conditions amongst all clinicians is essential to expedite diagnosis and manage appropriately. This review aims to describe normal adaptations to pregnancy and discuss how various types of IEM may be affected. Relevant translational research and clinical experience will be reviewed with practical management aspects cited. Based on current literature, the impact of maternal IEM on mother and/or foetus, as well as how foetal IEM may affect the mother, will be considered. Insights gained from these rare disorders to more common conditions will be explored. Gaps in the literature, unanswered questions and steps to enhance further knowledge and systematically capture experience, such as establishment of an IEM-pregnancy registry, will be summarized.

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Vitamin D stimulates placental L-type amino acid transporter 1 (LAT1) in preeclampsia

Jia

Cao

et al. 2022

Sci Rep

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Vitamin D insufficiency/deficiency has been linked to an increased risk of preeclampsia. Impaired placental amino acid transport is suggested to contribute to abnormal fetal intrauterine growth in pregnancies complicated by preeclampsia. However, if vitamin D-regulated amino acid transporter is involved in the pathophysiologic mechanism of preeclampsia has not been clarified yet. The aberrant expression of key isoform of L-type amino acid transporter LAT1 was determined by western blot and immunohistochemistry in the placenta from normotensive and preeclamptic pregnancies. The role for vitamin D on placental LAT1 expression was investigated through the exposure of HTR-8/SVneo human trophoblast cells to the biologically active 1,25(OH)2D3 and the oxidative stress-inducer cobalt chloride (CoCl2). Our results showed that placental LAT1 expression was reduced in women with preeclampsia compared to normotensive pregnancies, which was associated with decreased expression of vitamin D receptor (VDR). 1,25(OH)2D3 significantly upregulated LAT1 expression in placental trophoblasts, and also prevented the decrease of mTOR activity under CoCl2-induced oxidative stress. siRNA targeting VDR significantly attenuated 1,25(OH)2D3-stimulated LAT1 expression and mTOR signaling activity. Moreover, treatment of rapamycin specifically inhibited the activity of mTOR signaling and resulted in decrease of LAT1 expression. In conclusion, LAT1 expression was downregulated in the placenta from women with preeclampsia. 1,25(OH)2D3/VDR could stimulate LAT1 expression, which was likely mediated by mTOR signaling in placental trophoblasts. Regulation on placental amino acid transport may be one of the mechanisms by which vitamin D affects fetal growth in preeclampsia.

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Pregnancy, delivery and puerperium in a patient with lysinuric protein intolerance – a case report

Cited by 4 publications

References 0 publications

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

Impact of pregnancy on inborn errors of metabolism

Vitamin D stimulates placental L-type amino acid transporter 1 (LAT1) in preeclampsia

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