Low incidence of alpha 1 antitrypsin deficiency in Iranian patients with neonatal cholestasis

Motamed, Farzaneh; Mehrabani, Sanaz; Monajemzadeh, Maryam; Ashtiani, Mohammad Taghi Haghi; Hosseinverdi, Sima; Houshmand, Massoud; Aryani, Omid; Najafi, Mehri; Farahmand, Fatemeh; Kiani, Mohammad Ali; Kazemi, Ahmad; Fallahi, Gholamhossein; Khatami, Gholamreza; Rezaei, Nima

doi:10.5152/tjg.2015.6339

Cited by 3 publications

(2 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The prevalence of A1ATD in newborns was 1/1,639 in USA and 1/1,575 (PiZZ genotype) in Sweden [9,10]. Conversely, the incidence of A1ATD has been reported to be very low in Iranian patients with neonatal cholestasis [11]. The incidence of this disease seems to be low in our country, Turkey, based on data from the pediatric transplantation center [12]; it was reported in 3.6% of infants with cholestasis [13].…”

Section: Introductionmentioning

confidence: 99%

Liver Involvement in Children with Alpha-1 Antitrypsin Deficiency: A Multicenter Study

Çakır

Sağ

İşlek

et al. 2020

Pediatr Gastroenterol Hepatol Nutr

View full text Add to dashboard Cite

Alpha-1 antitrypsin deficiency (A1ATD) in one of the most common genetic causes of liver disease in children. We aimed to analyze the clinical characteristics and outcomes of patients with A1ATD. Methods: This study included patients with A1ATD from five pediatric hepatology units. Demographics, clinical findings, genetics, and outcome of the patients were recorded (n=25). Results: Eight patients (32.0%) had homozygous PiZZ genotype while 17 (68.0%) had heterozygous genotype. Patients with PiZZ genotype had lower alpha-1 antitrypsin levels than patients with PiMZ genotype (37.6±7.7 mg/dL vs. 66.5±22.7 mg/dL, p=0.0001). Patients with PiZZ genotype were diagnosed earlier than patients with PiMZ genotype, but this was not significant (13±6.8 months vs. 23.7±30.1 months, p=0.192). Follow-up revealed the death of one patient (12.5%) with a homozygous mutation, and revealed that one patient had child A cirrhosis, five patients (62.5%) had chronic hepatitis, and one patient (12.5%) was asymptomatic. Nine of the 17 patients with a heterozygous mutation had chronic hepatitis (52.9%), two (11.7%) had child A cirrhosis, and six (35.2%) were asymptomatic. Overall, 18 (72%) of the 25 children had liver pathology in the long-term. Conclusion: Although prevalence is rare, patients with liver disorders should be checked for alpha-1 antitrypsin levels. Moreover, long-term follow-up is essential because most patients have a liver pathology.

show abstract

Section: Introductionmentioning

confidence: 99%

Liver Involvement in Children with Alpha-1 Antitrypsin Deficiency: A Multicenter Study

Çakır

Sağ

İşlek

et al. 2020

Pediatr Gastroenterol Hepatol Nutr

View full text Add to dashboard Cite

show abstract

“…In a study conducted in Iran, Lotfi et al (2005) used the PCR-RFLP and reported a very low incidence of homozygotes in patients with liver and pulmonary diseases (16). There are other studies which confirmed the absence of ATT deficiency in Iranian patients with cholestasis and jaundice (4,17,18). Our results are in accordance with previously published data from Iran, mentioning the low prevalence of AAT deficiency in infants with cholestatic idiopathic hepatic disease.…”

Section: Discussionmentioning

confidence: 82%

The Frequency of Genetic Alleles of Alpha-1 Antitrypsin in Infants and Children with the Cholestatic Idiopathic Hepatic Disease in Khorasan Razavi- Iran

et al. 2020

View full text Add to dashboard Cite

Background: Alpha-1 antitrypsin (AAT) deficiency is a common genetic cause of childhood liver disorders. Its prevalence is highly variable around the world. Although this genetic deficiency is the main cause of neonatal jaundice, few studies have investigated AAT in Iran. Objectives: The current study aimed to investigate the association between specific alleles of AAT with idiopathic neonatal jaundice disease in patients with idiopathic jaundice. Methods: In this study, 30 neonates with a definitive diagnosis of neonatal cholestasis referred to Ghaem, and Dr. Sheikh hospitals in Mashhad (Iran) are included. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed on the extracted DNA from their blood samples. In the lack of commonly mutated alleles detected, the whole gene exons were DNA sequenced. Results: In the molecular test, we found no case of PiS or PiZ allele. The mutated alleles of PiS and PiZ were not appeared in patients with neonatal jaundice using the PCR-RFLP method. DNA sequencing was performed in 30 patients. Other rare missense variations were detected in the form of heterozygous (for Glu400Asp in 8 patients and Val237Ala in 2 patients), homozygous (for Glu400Asp in 1 patient), and compound heterozygous (for Glu400Asp/Val237Ala in 3 patients and Val237Ala/Asp280Val in 1 patient). Conclusions: The AAT deficiency caused by PiZ and PiS allelic variants was noted among infants with neonatal cholestasis in the Khorasan province of Iran. Other rare variants in the PiM might be caused by AAT deficiency and presenting the neonatal cholestasis. The possible functional study should be considered for the mutations identified.

show abstract

Alpha-1 antitrypsin: Associated diseases and therapeutic uses

Kandregula¹,

Aseervatham²,

Bentley

et al. 2016

Clinica Chimica Acta

View full text Add to dashboard Cite

Low incidence of alpha 1 antitrypsin deficiency in Iranian patients with neonatal cholestasis

Cited by 3 publications

References 12 publications

Liver Involvement in Children with Alpha-1 Antitrypsin Deficiency: A Multicenter Study

Liver Involvement in Children with Alpha-1 Antitrypsin Deficiency: A Multicenter Study

The Frequency of Genetic Alleles of Alpha-1 Antitrypsin in Infants and Children with the Cholestatic Idiopathic Hepatic Disease in Khorasan Razavi- Iran

Alpha-1 antitrypsin: Associated diseases and therapeutic uses

Contact Info

Product

Resources

About