Dataset Information

COQ8B-Related Steroid-Resistant Nephrotic Syndrome in Saudi Arabia: A Case Report.

ABSTRACT: The CoQ10 enzyme has several vital roles in the human body. CoQ10 deficiency can lead to many clinical manifestations including the steroid-resistant nephrotic syndrome. At least 16 genes work together to facilitate the correct synthesis of CoQ10, one of which is CoQ8B. We report the case of a 14-year-old male with a rare homozygous variant, who presented with late severe nephrotic syndrome and bilateral small dysplastic kidneys. This report will also describe the comprehensive and systemic workup that is needed in these patients. We conclude that physicians need to consider renal causes in their workup of any unexplained oedema in children and that in such cases, screening for rarer genetic causes should be considered in a country such as Saudi Arabia, given the relatively high rates of consanguinity here.

SUBMITTER: Alvi NH

PROVIDER: S-EPMC9749873 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature

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COQ8B-Related Steroid-Resistant Nephrotic Syndrome in Saudi Arabia: A Case Report.

Alvi Nasser H NH Turkstani Bakur A BA Ashi Ahmad S AS Alzahrani Abdullah M AM Tawffeq Abdulaziz M AM

Cureus 20221126 11

The CoQ10 enzyme has several vital roles in the human body. CoQ10 deficiency can lead to many clinical manifestations including the steroid-resistant nephrotic syndrome. At least 16 genes work together to facilitate the correct synthesis of CoQ10, one of which is <i>CoQ8B</i>. We report the case of a 14-year-old male with a rare homozygous variant, who presented with late severe nephrotic syndrome and bilateral small dysplastic kidneys. This report will also describe the comprehensive and system ...[more]

PMID: 36532926

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Project description:BACKGROUND:Treatment of steroid-resistant nephrotic syndrome (SRNS) remains a challenge for paediatricians. SRNS accounts for 10~20% of childhood cases of nephrotic syndrome (NS). Individuals with SRNS overwhelmingly progress to chronic kidney disease (CKD) and end-stage kidney disease (ESRD). Genetic research is of great significance for diagnosis and treatment. More than 39 recessive or dominant genes have been found to cause human SRNS, including COQ2. COQ2 gene mutations not only cause primary coenzyme Q10 deficiency but also cause SRNS without extrarenal manifestations. The concept of COQ2 nephropathy has been proposed for a long time. Mutations in the COQ2 gene have rarely been reported. Worldwide, only 5 cases involving 4 families have been reported. CASE PRESENTATION:We present the case of a 6-month-old girl with steroid-resistant glomerulopathy due to a COQ2 defect with no additional systemic symptoms. The patient was identified as a homozygote for the c.832?T?>?C (p. Cys278Arg) missense mutation and a single base homozygous mutation in ARSB gene in c.1213?+?1G?>?A. The father and mother were heterozygous mutation carriers in both COQ2 and ARSB, and her healthy sister was only a heterozygous mutation carrier in COQ2. In this case, hormone therapy was ineffective, and progressive deterioration of renal function occurred within 1?week after onset, leading to acute renal failure and eventual death. CONCLUSIONS:We reported a consanguinity married family which had COQ2 and ARSB dual mutant. Kidney diseases caused by COQ2 gene mutations can manifest as SRNS, with poor prognosis. The C. 832?T?>?c (p.csc 278arg) is a new mutation site. Genetic assessment for children with steroid-resistant nephrotic syndrome, especially in infancy, is very important. Families with a clear family history should receive genetic counselling and prenatal examinations, and children without a family phenotype should also receive genetic screening as early as possible.

Dataset Information

COQ8B-Related Steroid-Resistant Nephrotic Syndrome in Saudi Arabia: A Case Report.

Publications

COQ8B-Related Steroid-Resistant Nephrotic Syndrome in Saudi Arabia: A Case Report.

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