Renal Transplantation in Familial Dysautonomia

Rekhtman, Yelena; Bomback, Andrew S.; Nash, Martin A.; Cohen, Scott; Matalon, Albert; Jan, Dominique M.; Axelrod, Felicia B.; Appel, Gerald B.

doi:10.2215/cjn.01750210

Cited by 17 publications

(8 citation statements)

References 20 publications

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“…S4). Chronic kidney disease (CKD) is an increasingly common complication of FD, with half of the patients reaching stage 3 CKD by the age of 25 (37). Although hydronephrosis has been observed in 10% of young FD patients, its cause is currently unknown (38).…”

Section: Phenotypic and Behavioral Characteristics In Adulthoodmentioning

confidence: 99%

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

Dietrich

Alli

Shanmugasundaram

et al. 2012

Human Molecular Genetics

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Hereditary sensory and autonomic neuropathies (HSANs) encompass a group of genetically inherited disorders characterized by sensory and autonomic dysfunctions. Familial dysautonomia (FD), also known as HSAN type III, is an autosomal recessive disorder that affects 1/3600 live births in the Ashkenazi Jewish population. The disease is caused by abnormal development and progressive degeneration of the sensory and autonomic nervous systems and is inevitably fatal, with only 50% of patients reaching the age of 40. FD is caused by a mutation in intron 20 of the Ikbkap gene that results in severe reduction in the expression of its encoded protein, inhibitor of kappaB kinase complex-associated protein (IKAP). Although the mutation that causes FD was identified in 2001, so far there is no appropriate animal model that recapitulates the disorder. Here, we report the generation and characterization of the first mouse models for FD that recapitulate the molecular and pathological features of the disease. Important for therapeutic interventions is also our finding that a slight increase in IKAP levels is enough to ameliorate the phenotype and increase the life span. Understanding the mechanisms underlying FD will provide insights for potential new therapeutic interventions not only for FD, but also for other peripheral neuropathies.

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Section: Phenotypic and Behavioral Characteristics In Adulthoodmentioning

confidence: 99%

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

Dietrich

Alli

Shanmugasundaram

et al. 2012

Human Molecular Genetics

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“…Ayırıcı tanıda karsinoid sendrom, malign nöroleptik sendrom, serotonin sendromu ve tiroid fırtınası da göz önünde bulundurulmalıdır. 9,10 Disotonomik krizlerde laboratuvar bulguları tanıyı destekler niteliktedir. Genellikle olguların plazma katekolamin düzeyleri yüksek olarak saptanmıştır.…”

Section: Discussionunclassified

Dexmedetomidine Use in Guillain Barré Syndrome Accompanied by Sympathetic Hyperactivity: Case Report

Karaören¹,

Bozkurt²

2016

Turkiye Klinikleri J Case Rep

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“…This is in line with histopathology reports in these patients showing changes typical of hypertensive nephrosclerosis. 3 , 26 Since patients with FD who have the greatest orthostatic fall in blood pressure do not always have the lowest blood pressure standing, the orthostatic fall is more a measure of blood pressure variability/instability rather than the severity of hypotension per se . Moreover, episodic hypotension, particularly in the young, is unlikely to cause CKD.…”

Section: Discussionmentioning

confidence: 99%

Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome

2011

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Riley Day syndrome, commonly referred to as familial dysautonomia (FD), is a genetic disease with extremely labile blood pressure due to baroreflex deafferenation. Chronic renal disease is very frequent in these patients and was attributed to recurrent arterial hypotension and renal hypoperfusion. Aggressive treatment of hypotension, however, has not reduced its prevalence. We evaluated the frequency of kidney malformations as well as the impact of hypertension, hypotension and blood pressure variability on the severity of renal impairment. We also investigated the effect of fludrocortisone treatment on the progression of renal disease. Patients with FD appeared to have an increased incidence of hydronephrosis/reflux and patterning defects. Patients younger than 4 years old had hypertension and normal eGFR. Patients with more severe hypertension and greater variability in their blood pressure had worse renal function (both, p<0.01). In contrast, there was no relationship between eGFR and the lowest blood pressure recorded during upright tilt. The progression of renal disease was faster in patients receiving fludrocortisone (p<0.02). Hypertension precedes kidney disease in these patients. Moreover, increased blood pressure variability as well as mineralocorticoid treatment accelerate the progression of renal disease. No association was found between hypotension and renal disease in patients with FD.

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Renal Transplantation in Familial Dysautonomia

Cited by 17 publications

References 20 publications

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

Dexmedetomidine Use in Guillain Barré Syndrome Accompanied by Sympathetic Hyperactivity: Case Report

Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome

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