Essam Al‐Sabban

King Faisal Specialist Hospital & Research Centre

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Trends

Author Order

Document Type

Co-Authors

Sami A. Sanjad

American University of Beirut Medical Center

Osman Alfurayh

King Faisal Specialist Hospital & Research Centre

Khalid Al-Shaibani

University of Toledo

Wajeh Y. Qunibi

The University of Texas Health Science Center at San Antonio

Syed Raza

King Faisal Specialist Hospital & Research Centre

Saadi Taher

Tehran University of Medical Sciences

Khalid Almeshari

King Faisal Specialist Hospital & Research Centre

Turki Alshareef

Alfaisal University

Ibrahim Alahmadi

Taibah University

Abbas Al-Abbad

King Faisal Specialist Hospital & Research Centre

Cooperative Institutions

King Faisal Specialist Hospital & Research Centre

170

Alfaisal University

King Saud University

King Abdulaziz City for Science and Technology

King Saud Medical City

Riyadh Armed Forces Hospital

King Fahd Security College

King Abdulaziz Medical City

King Saud bin Abdulaziz University for Health Sciences

Inserm

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Field

Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients

Human Mutation (2022)

Mohamed H. Al‐Hamed Maged H. Hussein Yaser Shah Hamad Al‐Mojalli Essam Al‐Sabban

The use of genetic testing within nephrology is increasing and its diagnostic yield depends on the methods utilized, patient selection criteria, and population characteristics. We performed exome sequencing (ES) analysis on 102 chronic kidney disease (CKD) patients with likely genetic kidney disease. Patients had diverse CKD subtypes with/without consanguinity, positive family history, and possible hereditary renal syndrome with extra-renal abnormalities or progressive kidney disease of unknown etiology. The identified genetic variants associated with the observed kidney phenotypes were then confirmed and reported. End-stage kidney disease was reported in 51% of the cohort and a family history of kidney disease in 59%, while known consanguinity was reported in 54%. Pathogenic/likely pathogenic variants were identified in 43 patients with a diagnostic yield of 42%, and clinically associated variants of unknown significance (VUS) were identified in further 21 CKD patients (21%). A total of eight novel predicted pathogenic variants and eight VUS were detected. The clinical utility of ES within the nephrology clinic was demonstrated allowing patient management to be disease-specific. In this cohort, ES detected a diagnostic molecular abnormality in 42% of patients with CKD phenotypes. Positive family history and high rates of consanguinity likely contributed to this high diagnostic yield.

Nephrology

10.1002/humu.24480

Cite

Citations (8)

Gonadal mosaicism as a rare cause of autosomal recessive inheritance

Clinical Genetics (2013)

Shams Anazi Essam Al‐Sabban Fowzan S. Alkuraya

Autosomal recessive diseases are typically caused by the biparental inheritance of familial mutant alleles. Unusual mechanisms by which the recessiveness of a mutant allele is unmasked include uniparental isodisomy and the occurrence of a de novo chromosomal rearrangement that disrupts the other allele. Gonadal mosaicism is a condition in which a postfertilization mutation is confined to the gamete precursors and is not detected in somatic tissues. Gonadal mosaicism is known to give the impression of autosomal recessive inheritance when recurrence of an autosomal‐dominant condition among offspring of phenotypically normal parents is observed. Here, we report an extremely rare event in which maternal gonadal mosaicism for a recessive mutation in COL4A4 caused the recurrence of Alport syndrome within a consanguineous family. Such rare occurrence should be taken into account when analyzing pedigrees both for clinical and research purposes.

Germline mosaicism

Pedigree chart

Non-Mendelian inheritance

10.1111/cge.12156

Cite

Citations (22)

Five-years' experience with cadaveric kidney transplantation at King Faisal Specialist Hospital and Research Center, Riyadh.

PubMed (1992)

G Lundgren Osman Alfurayh Duffy Bb Pam Hufford Nicholls Wajeh Y. Qunibi

Cadaveric spasm

Center (category theory)

Source

Cite

Citations (0)

Continuous renal replacement therapy in a preterm neonate with hyperammonemia secondary to a rare disease

Asian Journal of Pediatric Nephrology (2020)

Weiam Almaiman Yousef Sebeih Essam Al‐Sabban Fawaz Alanzi C. Skaff

We report a newborn baby girl with a rare cause of hyperammonemia, in which a session of continuous renal replacement therapy (CRRT) was performed successfully despite the child's small size. The baby was born at 34 weeks' gestation with a birth weight of 2.2 kg and was referred on day 4 of life with lethargy, bradycardia, hypothermia, hypoglycemia, and metabolic acidosis associated with hyperammonemia. Following the insertion of the GamCath line, CRRT was performed using continuous venovenous hemodialysis modality, Ultraflux AV Paed dialyzer (Fresenius Medical Care), and multiFiltrate pediatric kit. Over 19 h of therapy, serum ammonia level reduced from >700 μmol/L to 103 μmol/L. Next-generation sequencing revealed a homozygous pathogenic variation in SLC25A20 (NM_000387; exon2; c.109C>T; p.R37X), leading to a diagnosis of carnitine-acylcarnitine translocase deficiency. The child succumbed during a subsequent hospital stay. This case instructively informs on the feasibility and efficacy of CRRT in the management of neonatal hyperammonemia.

Hyperammonemia

Renal replacement therapy

Lethargy

Nephrocalcinosis

10.4103/ajpn.ajpn_9_20

Cite

Citations (1)

Post renal transplantation tubulopathies in children: a 9-year experience at a tertiary care centre.

PubMed (2008)

Alia Al-Ibrahim Sami Sanjed Abbas Al-Abbad Essam Al‐Sabban Khalid Al-Shaibani

To evaluate the incidence of tubulopathies in the long-term follow-up of children post renal transplantation, we reviewed the records of 43 patients from 1987-1996. There were 24 (56%) boys. The age of patients at the time of transplant ranged from 2.7 to 15 years. Eighteen children (78%) had transplantation from cadaver donors (CAD). Thirty-two (74%) patients were transplanted in Saudi Arabia and 11(26%) were transplanted abroad. Significant tubular dysfunction developed in 72% of patients. Renal Tubular Acidosis (RTA) occurred in 23/43 (53%) patients. The patients who received CAD grafts required higher mean dose of bicarbonate and longer duration of therapy compared to living related donors (LRD) recipients ( mean dose of 1.7 Vs 0.5 meq/kg/day and mean duration of 18 Vs 3 (1/2) months, respectively). Hypophosphatemia of various degrees of severity (0.4-0.8 mmol/1) was detected in 12 (28%) patients. Those who received CAD grafts required higher mean dose of phosphate and longer period of therapy than those who received LRD grafts. Hypomagnesemia requiring supplemental magnesium therapy occurred in 4 (9%) patients, all received tacrolimus therapy. In four patients with hypomagnesemia, this was mild and transient. Hypokalemia was found in 5 (11.5%) patients; all had CAD grafts. We conclude that tubulopathies were a frequent complication post renal transplantation in our population. They were more severe in the patients who received CAD grafts. However, the defects were controllable and transient.

Hypophosphatemia

Nephrology

Source

Cite

Citations (7)

The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis

International Journal of Molecular Sciences (2023)

Tjessa Bondue Anas Kouraich Sante Princiero Berlingerio Koenraad Veys Sandrine Marie

Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation. Three forms of cystinosis are distinguished: infantile and juvenile nephropathic cystinosis affecting kidneys and other organs such as the eyes, endocrine system, muscles, and brain, and adult ocular cystinosis affecting only the eyes. Currently, elevated white blood cell (WBC) cystine content is the gold standard for the diagnosis of cystinosis. We present a patient with proteinuria at adolescent age and corneal cystine crystals, but only slightly elevated WBC cystine levels (1.31 ½ cystine/mg protein), precluding the diagnosis of nephropathic cystinosis. We demonstrate increased levels of cystine in skin fibroblasts and urine-derived kidney cells (proximal tubular epithelial cells and podocytes), that were higher than the values observed in the WBC and healthy control. CTNS gene analysis shows the presence of a homozygous missense mutation (c.590 A > G; p.Asn177Ser), previously described in the Arab population. Our observation underlines that low WBC cystine levels can be observed in patients with juvenile cystinosis, which may delay the diagnosis and timely administration of cysteamine. In such patients, the diagnosis can be confirmed by cystine measurement in slow-dividing cells and by molecular analysis of the CTNS gene.

Cystinosis

Cysteamine

Lysosomal storage disease

10.3390/ijms24021253

Cite

Citations (1)

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families

Journal of Human Genetics (2013)

Mohamed H. Al‐Hamed Essam Al‐Sabban Hamad Al‐Mojalli Naffaa Al-Harbi Eissa Faqeih

Hypoalbuminemia

Molecular Genetics

10.1038/jhg.2013.27

Cite

Citations (49)

Horseshoe kidney with hydronephrosis secondary to ureteric stenosis: construction of a ureter from the renal pelvis

BJU International (1999)

Aisha Rashid Mohamed Binsultan Alshamsi J. Abudaia Essam Al‐Sabban Saeed Ahmed

Horseshoe kidney

10.1046/j.1464-410x.1999.00858.x

Cite

Citations (2)

Clinical and Serologic Responses of Saudi Children to Hemophilus Influenzae Type B Capsular Polysaccharide Diphtheria Toxoid Conjugate Vaccine

Annals of Saudi Medicine (1993)

Husn H. Frayha Hamida Shaheen Robert S. Ganelin Hoda Kattan Haysam Tufenkeji

Sixty-eight Saudi children, 17 to 19 months of age, were enrolled in a study to evaluate the safety and immunogenicity of Hemophilus influenzae type B capsular polysaccharide diphtheria toxoid (PRP-D) conjugate vaccine. Adverse reactions to the vaccine were determined through a questionnaire administered to the parents. Local and systemic reactions to the vaccine were mild and resolved within 24 to 48 hours. PRP antibody levels were measured prior to and one to two months following immunization. PRP antibody levels in the pre-immunization sera of 77% of subjects were below the level associated with immediate protection (>/=0.15 microg/ml), and 88% were below the level associated with long-term protection (>/=1 microg/ml) from Hemophilus influenzae type B (HIB) disease. After one dose of PRP-D vaccine, 100% of recipients achieved antibody levels of >/=0.15 microg/ml, and 85% achieved levels of >/=1 microg/ml. The geometric mean level of antibody after immunization (5.66 microg/ml) was significantly higher than that before immunization (0.098 microg/ml). All subjects had a twofold or greater increase in antibody level in response to the vaccine. We conclude that PRP-D is a safe and highly immunogenic vaccine in this age group of Saudi children.

10.5144/0256-4947.1993.215

Cite

Citations (6)

Nephropathic Cystinosis The Challenge Continues

Genetics & Genomic Sciences (2023)

Essam Al‐Sabban

Cystinosis is a rare autosomal recessive metabolic disorder characterized by high intracellular content of free cystine which appears to be compartmentalized within lysosomes

Cystinosis

10.24966/ggs-2485/100039

Cite

Citations (0)