History of Preeclampsia in Patients Undergoing a Kidney Biopsy: A Biphasic, Multiple-Hit Pathogenic Hypothesis

Cabiddu, Gianfranca; Longhitano, Elisa; Cataldo, Emanuela; Lepori, Nicola; Chatrenet, Antoine; Torreggiani, Massimo; Attini, Rossella; Masturzo, Bianca; Rossini, Michele; Versino, Elisabetta; Moroni, Gabriella; Pani, Antonello; Gesualdo, Loreto; Santoro, Domenico; Piccoli, Giorgina Barbara

doi:10.1016/j.ekir.2021.12.014

Cited by 8 publications

(4 citation statements)

References 45 publications

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“…However, these changes have also been found in pre-eclampsia and are not specific to mitochondrial disease. 20 IgA nephropathy is not typically reported with mitochondrial disease and features of IgA disease in our third patient increasing both the challenges of definitive diagnosis and possibility of concurrent diagnoses. One possibility is that metabolic and oxidative dysfunction from renal disease triggered the latent LHON mutation to manifest with visual loss, which may explain the later than typical onset of vision loss, particularly for our third male patient.…”

Section: Discussionmentioning

confidence: 72%

Mitochondrial DNA 13513G>A Mutation Causing Leber Hereditary Optic Neuropathy Associated With Adult-Onset Renal Failure

Swart¹,

Fraser²,

Shingde³

et al. 2023

Journal of Neuro-Ophthalmology

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Background: Leber hereditary optic neuropathy (LHON) is one of the more common mitochondrial diseases and is rarely associated with mitochondrial renal disease. We report 3 unrelated patients with a background of adult-onset renal failure who presented to us with LHON and were shown to have a heteroplasmic mitochondrial DNA mutation (m.13513G>A). Methods: Retrospective chart review. Results: All 3 patients had a background of chronic renal failure and presented to us with bilateral optic neuropathy (sequential in 2) and were found to have heteroplasmic m.13513G>A mutations in the MT-ND5 gene. Two of the patients were females (aged 30 and 45 years) with chronic kidney disease from their 20s, attributed to pre-eclampsia, one of whom also had diabetes and sudden bilateral hearing loss. One patient was a male (aged 54 years) with chronic kidney disease from his 20s attributed to IgA nephropathy. His mother had diabetes and apparently sudden bilateral blindness in her 70s. Renal biopsy findings were variable and included interstitial fibrosis, acute tubular necrosis, focal segmental glomerulosclerosis, and IgA/C3 tubular casts on immunofluorescence. Mild improvements in vision followed treatment with either idebenone or a combination supplement including coenzyme Q10, alpha-lipoic acid, and B vitamins. Conclusions: Our cases expand the clinical syndromes associated with m.13513G>A to include bilateral optic neuropathy and adult-onset renal disease. This highlights that in patients with bilateral, especially sequential, optic neuropathy a broad approach to mitochondrial testing is more useful than a limited LHON panel. Mitochondrial diseases present a diagnostic challenge because of their clinical and genetic variability.

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Section: Discussionmentioning

confidence: 72%

Mitochondrial DNA 13513G>A Mutation Causing Leber Hereditary Optic Neuropathy Associated With Adult-Onset Renal Failure

Swart¹,

Fraser²,

Shingde³

et al. 2023

Journal of Neuro-Ophthalmology

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“…Limited data exist on long-term renal function; however, studies have suggested a higher incidence of renal replacement therapy in women with FSGS after 10 years compared to those without a history of pregnancy (19–22% vs. 7%) [ 60 , 64 ]. Unfortunately, in this case, the role of PE as “second hit” in contributing to CKD progression remains unclear [ 65 ].…”

Section: Pregnancy and Primary Glomerulonephritismentioning

confidence: 99%

Pregnancy in Glomerular Disease: From Risk Identification to Counseling and Management

Maressa,

Longhitano,

Casuscelli

et al. 2024

JCM

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Background: Pregnancy involves complex hemodynamic and immune adaptations to support the developing fetus. The kidney assumes a pivotal role in orchestrating these mechanisms. However, renal disease poses a potential risk for adverse maternal–fetal outcomes. While kidney function, hypertension, and proteinuria are recognized as key influencers of risk, the mere presence of glomerular disease, independent of these factors, may wield significant impact. Methods: A brief review of the existing literature was conducted to synthesize current knowledge regarding the interplay between glomerulonephritis and pregnancy. Results: The review underscores the centrality of the kidney in the context of pregnancy and highlights the role of glomerular disease, particularly when active. It emphasizes multifaceted risk modulators, including kidney function, hypertension, and proteinuria. Conclusion: Understanding the dynamics between pregnancy and glomerulonephritis is crucial for optimizing maternal and fetal outcomes. Preconception counseling and collaborative nephro-gynecological management emerge as pivotal components in addressing the unique challenges posed by this medical interplay.

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“…If, on the one hand, HDPs may reveal the presence of an underlying disease or predisposition, on the other hand, PE may act as a hit, often in the context of the multiple-hit pathogenesis of cardiovascular, renal, and metabolic disorders [ 60 , 61 , 62 , 63 , 64 , 65 ]. While a discussion of the cardiovascular effects of PE is beyond the scope of this review, its effects on kidney function deserve mention.…”

Section: The Hypertensive Disorders Of Pregnancy and The Future Risk ...mentioning

confidence: 99%

“…While a discussion of the cardiovascular effects of PE is beyond the scope of this review, its effects on kidney function deserve mention. After Viske’s pivotal study on the Norway registry, highlighting the risk of end-stage kidney disease after PE (an OR of about 4.7), attention has increasingly been focused on these issues: subsequent studies showed a close association between an episode of PE and the need for a kidney biopsy later in life, suggesting that hypertensive disorder may be either a trigger for or an early marker of renal dysfunction [ 60 , 66 , 67 ].…”

Section: The Hypertensive Disorders Of Pregnancy and The Future Risk ...mentioning

confidence: 99%

The Hypertensive Disorders of Pregnancy: A Focus on Definitions for Clinical Nephrologists

Longhitano

Siligato

Torreggiani

et al. 2022

JCM

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About 5–10% of pregnancies are complicated by one of the hypertensive disorders of pregnancy. The women who experience these disorders have a greater risk of having or developing kidney diseases than women with normotensive pregnancies. While international guidelines do not provide clear indications for a nephrology work-up after pregnancy, this is increasingly being advised by nephrology societies. The definitions of the hypertensive disorders of pregnancy have changed greatly in recent years. The objective of this short review is to gather and comment upon the main definitions of the hypertensive disorders of pregnancy as a support for nephrologists, who are increasingly involved in the short- and long-term management of women with these disorders.

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History of Preeclampsia in Patients Undergoing a Kidney Biopsy: A Biphasic, Multiple-Hit Pathogenic Hypothesis

Cited by 8 publications

References 45 publications

Mitochondrial DNA 13513G>A Mutation Causing Leber Hereditary Optic Neuropathy Associated With Adult-Onset Renal Failure

Mitochondrial DNA 13513G>A Mutation Causing Leber Hereditary Optic Neuropathy Associated With Adult-Onset Renal Failure

Pregnancy in Glomerular Disease: From Risk Identification to Counseling and Management

The Hypertensive Disorders of Pregnancy: A Focus on Definitions for Clinical Nephrologists

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