Scholarlink

Background <p>Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder characterized by kidney and hepatic involvement, often presenting in early life. Data from Arab populations are limited<b>,</b> particularly in Oman, where consanguinity is common and may influence genotype–phenotype correlations.</p> Methods <p>This retrospective study included Omani children (0–13&#xa0;years) diagnosed with ARPKD between January 2011 and December 2024 at two national tertiary centers. Clinical features, genetic variants, kidney and hepatic outcomes, and mortality were analyzed. Kidney and hepatic severity were compared by genotype, and kidney and patient survival were assessed using Kaplan–Meier analysis.</p> Results <p>A total of 114 patients were included; 58.9% presented before 6&#xa0;months, and 64% had parental consanguinity. Hypertension occurred in 55.3%, 60% developed chronic kidney disease (CKD), and 12.3% progressed to kidney failure (KF). Hepatic complications were frequent, including hepatomegaly (65.8%) and portal hypertension (20.2%). Genetic testing (<i>n</i> = 81) revealed a limited <i>PKHD1</i> variant spectrum predominantly c.107C &gt; T, c.406A &gt; G (novel), and c.4870C &gt; T with no truncating mutations identified. 107C &gt; T homozygosity was associated with more severe kidney and hepatic disease, while c.4870C &gt; T correlated with milder kidney involvement. Overall mortality was 10.5% and was associated with early presentation (p &lt; 0.05). Kaplan–Meier analysis showed high survival, with median survival not reached; estimated 5- and 10-year survival rates were 96.2% and 82.6%, respectively.</p> Conclusions <p>ARPKD in Omani children typically presents early and is strongly associated with high rates of consanguinity and recurrent <i>PKHD1</i> founder variants, with heterogeneous kidney and hepatic outcome. Early diagnosis, genetic counseling, and multidisciplinary care is essential in this setting.</p> Graphical abstract <p></p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Clinical spectrum, genetic variants, and outcomes of autosomal recessive polycystic kidney disease in Omani children: two-center experience

  • 期刊论文

  • 发表日期：

    2026年6月18日

查看全文
  • Mohamed S. Al Riyami,
  • Khadija Al Wahaibi,
  • Hiba Ahmed,
  • Maryam Ourdoucen,
  • Maryam Al Azani,
  • Anisa Al Maskari,
  • Asma Alfar,
  • Badria Al Ghaithi,
  • Suliman Al Saidi,
  • Intisar Al Alawi,
  • Naifain Al Kalbani,
  • Anwar Al-Omairi

摘要

Background

Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder characterized by kidney and hepatic involvement, often presenting in early life. Data from Arab populations are limited, particularly in Oman, where consanguinity is common and may influence genotype–phenotype correlations.

Methods

This retrospective study included Omani children (0–13 years) diagnosed with ARPKD between January 2011 and December 2024 at two national tertiary centers. Clinical features, genetic variants, kidney and hepatic outcomes, and mortality were analyzed. Kidney and hepatic severity were compared by genotype, and kidney and patient survival were assessed using Kaplan–Meier analysis.

Results

A total of 114 patients were included; 58.9% presented before 6 months, and 64% had parental consanguinity. Hypertension occurred in 55.3%, 60% developed chronic kidney disease (CKD), and 12.3% progressed to kidney failure (KF). Hepatic complications were frequent, including hepatomegaly (65.8%) and portal hypertension (20.2%). Genetic testing (n = 81) revealed a limited PKHD1 variant spectrum predominantly c.107C > T, c.406A > G (novel), and c.4870C > T with no truncating mutations identified. 107C > T homozygosity was associated with more severe kidney and hepatic disease, while c.4870C > T correlated with milder kidney involvement. Overall mortality was 10.5% and was associated with early presentation (p < 0.05). Kaplan–Meier analysis showed high survival, with median survival not reached; estimated 5- and 10-year survival rates were 96.2% and 82.6%, respectively.

Conclusions

ARPKD in Omani children typically presents early and is strongly associated with high rates of consanguinity and recurrent PKHD1 founder variants, with heterogeneous kidney and hepatic outcome. Early diagnosis, genetic counseling, and multidisciplinary care is essential in this setting.

Graphical abstract