End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases

Alawi, Intisar Al; Salmi, Issa Al; Al-Mawali, Adhra; Maimani, Yacoub Al; Sayer, John A.

doi:10.1155/2017/6403985

Cited by 24 publications

(18 citation statements)

References 21 publications

(23 reference statements)

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“…Inherited kidney disease is a leading cause of end stage kidney disease (ESKD) in children in Oman [7]. In a hospital-based study, the observed birth incidence of ARPKD was evaluated to be 1 in 12,000 births [9].…”

Section: Pathogenic Variants Have Been Identified In Multiple Unrelatmentioning

confidence: 99%

Clinical and Genetic Characteristics of Autosomal Recessive Polycystic Kidney Disease in Oman

Alawi

Molinari

Salmi³

et al. 2020

Preprint

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Background There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney and liver-associated morbidity and mortality in Oman. We describe the clinical and genetic profile of cohort of ARPKD patients.Methods We studied patients with a clinical diagnosis of ARPKD ( n =40) and their relatives [parents ( n =24) and unaffected siblings ( n =10)] from 32 apparently unrelated families, who were referred to the National Genetic Centre in Oman between January 2015 and December 2018. Genetic analysis of PKHD1 was performed through next generation sequencing (NGS) and Sanger sequencing.Results A clinical diagnosis of ARPKD was made prenatally in 8 patients, 21 were diagnosed during infancy (0-1 year), 9 during early childhood (2-8 years) and 2 at later ages (9-13 years). Clinical phenotypes included polycystic kidneys, hypertension, hepatic fibrosis and splenomegaly. 24 patients had documented chronic kidney disease. 24 out of the 32 families had a family history suggesting an autosomal recessive pattern of inherited kidney disease, and there was known consanguinity in 21 families (66%). A molecular genetic diagnosis with biallelic PKHD1 mutations was confirmed in 38 patients from 30 different families, giving a detection rate of 94%. Two unrelated patients remained genetically unsolved. In all of the solved cases, only four different PKHD1 missense pathogenic variants were identified: c.107C>T, p.(Thr36Met); c.406A>G, p.(Thr136Ala); c.4870C>T, p.(Arg1624Trp) and c.9370C>T, p.(His3124Tyr) located in exons 3, 6, 32 and 58, respectively. The c.406A>G, p.(Thr136Ala) missense mutation was detected homozygously in one family and heterozygously with a c.107C>T, p.(Thr36Met) allele in 5 other families. Overall, the most commonly detected pathogenic allele was c.107C>T; (Thr36Met), which was seen in 24 families.Conclusion Molecular genetic screening of PKHD1 in clinically suspected ARPKD cases produced a high diagnostic rate. The four PKHD1 missense variants identified suggest there may be common founder alleles in the Omani population. Cost effective targeted PCR analysis of these specific alleles can be a useful diagnostic tool for future cases of suspected ARPKD in Oman.

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Section: Pathogenic Variants Have Been Identified In Multiple Unrelatmentioning

confidence: 99%

Clinical and Genetic Characteristics of Autosomal Recessive Polycystic Kidney Disease in Oman

Alawi

Molinari

Salmi³

et al. 2020

Preprint

Self Cite

View full text Add to dashboard Cite

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“…Patients with ESRD of unknown etiology represented the third common presentation (12%). However, in a few studies considering patients treated by HD, DM was the leading cause of ESRD, followed by HTN (34.7% and 21.5% in one study and 46% and 19% in another one, respectively; [36,37]. In the current work, interstitial nephritis, hereditary nephritis, and pyelonephritis were more common in the female gender as a leading cause of ESRD on HD; a difference that could be explained by more tendency for female gender to urinary tract infection, and the possibility of them using more analgesics.…”

Section: Graph 5c Histograms Of Parathyroid Hormone In the Studied Group Graph 6 Kaplan-meier Curve For 3-year Survivalmentioning

confidence: 99%

Hemodialysis Status in an Egyptian Coastal City, Alexandria: An Epidemiological Study with a 3-year Prospective Mortality Observation

Megahed

Saleh

Fahmy³

et al. 2020

AJMAH

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Backgrounds: Hemodialysis (HD) represents the main modality of RRT in Egypt and it constitutes a burden on the health care budget. In Alexandria province of Egypt, HD service is provided through fifty-seven HD units, which are categorized into twenty-one nonprofit units and thirty-six private for-profit HD units. Our aims were to study epidemiology and to assess the three-year survival of ESRD patients treated by HD in governmental hospitals in Alexandria province. Methods and Design: In the year 2016; the data of the patients were collected from all the governmental hospitals in Alexandria province, which comprised seven HD units containing 687 patients. In a cross-sectional arm of the study, demographic data, vascular access, HIV, HBV and HCV serology, the possible etiology of chronic kidney disease (CKD), associated comorbidities, and the routine laboratory variables were included. Furthermore, in a prospective phase of the study, a three-year-survival rate of the studied HD patients was recorded. Results: The total number of HD patients in Alexandria province during 2019 was totaled to be 3552 in all HD units, so the estimated HD prevalence rate would be around 710 ppm. Demographic data of the surveyed 687 patients in the governmental HD units showed their mean age; 50.78 years with more males, and their mean duration of HD; 55 months. It was also noted that there was no positive seroconversion regarding HCV, HBV nor HIV. Sixteen HCV antibody-positive patients received direct-acting antiviral drugs and were converted to HCV PCR-negative. HTN was more common etiology of CKD in males, while DM and combined DM and HTN were more common in females. The target hemoglobin level was present in around 37% of the studied HD patients. Most of the studied patients had serum calcium ranged from 8-10 mg /dl and 53% of them had serum phosphorus ranged from 3-5.5 mg /dl. Para-thyroidectomy was done for 2% of the studied patients while 4% of cases received cinacalcet. The 3-year, 5-year and 7-year survival rates were 92.5%, 87%, and 82% respectively. Conclusion: The epidemiology of hemodialysis patients in Alexandria province is not different in many aspects from other published data about some Egyptian governorates however there is no published new epidemiology about the whole country. 11.2% of HCV Abs positive became PCR negative after antiviral management protocol.

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“…The importance of early diagnosis and management of ARPKD through genetic testing is widely recognized [7]. Precise molecular genetic diagnosis can improve the clinical management of patients, avoiding the exposure to unnecessary and invasive investigations and enhance early detection of kidney and extrarenal complications.…”

Section: Introductionmentioning

confidence: 99%

“…Inherited kidney disease is a leading cause of end stage kidney disease (ESKD) in children in Oman [7]. In one Omani hospital-based study, the observed birth incidence of ARPKD was evaluated to be much higher than typical, estimated to be 1 in 12,000 births [9].…”

Section: Introductionmentioning

confidence: 99%

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman

et al. 2020

Self Cite

View full text Add to dashboard Cite

Background: There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney and liver-associated morbidity and mortality in Oman. We describe the clinical and genetic profile of cohort of ARPKD patients. Methods: We studied patients with a clinical diagnosis of ARPKD (n = 40) and their relatives (parents (n = 24) and unaffected siblings (n = 10)) from 32 apparently unrelated families, who were referred to the National Genetic Centre in Oman between January 2015 and December 2018. Genetic analysis of PKHD1 if not previously known was performed using targeted exon PCR of known disease alleles and Sanger sequencing. Results: A clinical diagnosis of ARPKD was made prenatally in 8 patients, 21 were diagnosed during infancy (0-1 year), 9 during early childhood (2-8 years) and 2 at later ages (9-13 years). Clinical phenotypes included polycystic kidneys, hypertension, hepatic fibrosis and splenomegaly. Twenty-four patients had documented chronic kidney disease (median age 3 years). Twenty-four out of the 32 families had a family history suggesting an autosomal recessive pattern of inherited kidney disease, and there was known consanguinity in 21 families (66%). A molecular genetic diagnosis with biallelic PKHD1 mutations was known in 18 patients and newly identified in 20 other patients, totalling 38 patients from 30 different families. Two unrelated patients remained genetically unsolved. The different PKHD1 missense pathogenic variants were: c.107C > T, p.(Thr36Met); c.406A > G, p.(Thr136Ala); c.4870C > T, p.(Arg1624Trp) and c.9370C > T, p.(His3124Tyr) located in exons 3, 6, 32 and 58, respectively. The c.406A > G, p.(Thr136Ala) missense mutation was detected homozygously in one family and heterozygously with a c.107C > T, p.(Thr36Met) allele in 5 other families. Overall, the most commonly detected pathogenic allele was c.107C > T; (Thr36Met), which was seen in 24 families. Conclusions: Molecular genetic screening of PKHD1 in clinically suspected ARPKD cases produced a high diagnostic rate. The limited number of PKHD1 missense variants identified in ARPKD cases suggests these may be common founder alleles in the Omani population. Cost effective targeted PCR analysis of these specific alleles can be a useful diagnostic tool for future cases of suspected ARPKD in Oman.

show abstract

End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases

Cited by 24 publications

References 21 publications

Clinical and Genetic Characteristics of Autosomal Recessive Polycystic Kidney Disease in Oman

Clinical and Genetic Characteristics of Autosomal Recessive Polycystic Kidney Disease in Oman

Hemodialysis Status in an Egyptian Coastal City, Alexandria: An Epidemiological Study with a 3-year Prospective Mortality Observation

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman

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