Clinical and laboratory features of biliary atresia and patterns of management practices: Saudi national study (2000-2018).

BACKGROUND: We utilized the data from the Saudi national biliary atresia (BA) study (2000-2018) to describe the clinical, biochemical, imaging, and histopathological features of BA and the perioperative clinical practices among local pediatric gastroenterologists. METHODS: This is a retrospective, multicenter, nationwide study that included 10 tertiary care governmental hospitals including the four liver transplant (LT) centers in different regions across Saudi Arabia. RESULTS: BA was diagnosed in 204 infants (106 females; 10% preterm). The median age at referral was 65 days. Congenital anomalies were present in 68 patients (33%); 22 were splenic malformation (10.8%). The medians of laboratory investigations were total bilirubin (189 µmol/l), direct bilirubin (139 µmol/l), ALT (164 u/l), and GGT (472 u/l). The level of serum GGT was normal in 26 cases (12.7%). The ultrasound findings included hypoplastic or atrophic gall bladder (GB) (65%), normal GB (30%), and cord sign (5%). A HIDA scan was performed in 99 cases (48.52%). Magnetic resonance cholangiopancreatography (MRCP) was performed in 27 cases (13%). A total of 179 liver biopsies (88%) were obtained. The most common histopathologic findings were bile duct proliferation (92%), canalicular cholestasis (96%), bile plugs (84%), and portal fibrosis (95%). Cholangiography was performed in 139 cases (68%): operative in 122 (60%) and percutaneous in 17 (8%). A total of 143 children (70%) underwent Kasai portoenterostomy (KPE) at a median age of 70 days. After KPE, steroid was used in 37% of the cases and 100 cases (70%) were prescribed prophylactic antibiotics for variable duration (ranging between 3 and 12 months). CONCLUSION: Our data show marked variation in the diagnostic evaluation and perioperative management of BA cases among the different tertiary centers. There is a need to establish a national BA registry in Saudi Arabia aiming to standardize pre- and postoperative clinical practices. Additionally, normal serum GGT level, normal GB size on ultrasound, and being a premature baby should not preclude the diagnostic workup for BA.

Intestinal fungal profile in healthy Saudi children.

BACKGROUND AND STUDY AIM: Fungi have a well-established role in medicine. Herein, we describe the fungal profile and abundance in the gut of healthy Saudi children. PATIENTS AND METHODS: Fecal samples from a random sample of 20 school-age Saudi children were collected, stored at -80 °C, and dispatched to the laboratory in the USA where fungal DNAs were isolated and shotgun metagenomic sequencing was performed. Abundance was presented as average percentage of fungal taxa. RESULTS: The median age of the participants was 12.5 years (range: 7-16 years), and 35 % were male. Ascomycota were the most abundant phyla and Eurotiomycetes, Saccharomycetes, were the most abundant class. The average abundance of fungal genera were Histoplasma (36 %) and Saccharomyces (31 %). The most abundant species were Histoplasma capsulatum (36 %) and Saccharomyces pastorianus (23 %). Other less abundant but may be functionally important genera and species included Candida (2.6 %) and Saccharomycescerevisiae (8 %). CONCLUSION: The profile and abundance of the gut fungi in healthy Saudi children reveals important differences compared to Western literature. Accordingly, this report represents a more appropriate reference than Western data to use as controls for regional studies aiming to identify fungi associated with disease.

Multichannel intraesophageal impedance with pH metry in Saudi children.

BACKGROUND: Multichannel Intraesophageal Impedance with pH (MII-pH) provides complete characterization of gastroesophageal reflux (GER). The aim of this study was to report our experience in this relatively new technique, emphasizing the challenges in the performance and interpretation of the results. METHODS: The study was conducted at King Khalid University Hospital at King Saud University in Riyadh. A retrospective review of the medical records of children who underwent MII-pH was performed. The procedure was performed and interpreted according to the recommended methodology. The impedance catheter was introduced nasally. The use of event markers and diary were explained to the accompanying person. At the end of the recording, the data were downloaded to the software analysis system. RESULTS: MII-pH was performed on 98 children, and 16 studies were excluded from analysis for technical reasons. The median age was 32 (range 2-168) months and 44 (54%) were male. The prevalence of nonacid gastroesophageal reflux (NAGER), proximal extent of GER, and postprandial NAGER were 55%, 50%, and 70%, respectively. One hundred and fifty-three symptoms were reported during the study, but only two were significant. CONCLUSION: The MII-pH was well-tolerated but the performance and interpretation were technically demanding. The main advantage was the detection of NAGER. However, the lack of normal values and the reliance on symptom association make the interpretation of the results challenging.

Prevalence of functional gastrointestinal disorders in Saudi infants and toddlers: A cross-sectional multicenter study.

BACKGROUND: Functional gastrointestinal disorders (FGIDs) are common pediatric problems, but their prevalence in Saudi Arabia is unknown. We aimed to assess the prevalence of FGIDs and risk factors among children in six regions of Saudi Arabia. METHODS: This was a cross-sectional multicenter study enrolling children aged 0-48 months, attending pediatric clinics. Questionnaires evaluated the clinical history, symptoms, and sociodemographic information. FGIDs were defined according to Rome IV criteria. RESULTS: The study involved 1011 infants and toddlers (mean [standard deviation (SD)] aged, 21.7 [19.4] months; FGIDs and mean [SD] age 17.4 [16.4] months; controls). FGIDs were diagnosed in 483 (47.7%) of all infants and toddlers. The prevalence of FGIDs was significantly higher in children aged 0-12 months than in those aged 13-48 months ( P < 0.001). The most common disorders were functional regurgitation (13.8%) in infants and functional constipation (9.6%) in toddlers. Univariate regression analysis confirmed that the rate of FGIDs was higher in term gestational age infants (odds ratio (OR) 2.7; 95% confidence interval (CI), 1.76-4.17, P < 0.001), in partial breastfeeding (OR 0.58; 95% CI, 0.40-0.84, P = 0.003), in formula feeding (OR 2.25; 95% CI, 1.51-3.35, P < 0.001), and in subjects with no history of food allergy (OR 2.40; 95% CI, 1.58-3.64, P < 0.001). CONCLUSION: FGIDs are common in Saudi infants and toddlers (47.7%). Regurgitation is most prevalent in infants, and functional constipation is most common in toddlers. Term gestational age infant, partial breastfeeding, formula feeding, and subjects with no history of food allergy are associated with the prevalence of FGIDs.

Clinical Characteristics of Celiac Disease and Dietary Adherence to Gluten-Free Diet among Saudi Children.

PURPOSE: To describe the clinical characteristics of celiac disease (CD) among Saudi children and to determine the adherence rate to gluten free diet (GFD) and its determinant factors among them. METHODS: A cross-sectional study was conducted, in which all the families registered in the Saudi Celiac Patients Support Group were sent an online survey. Only families with children 18 years of age and younger with biopsy-confirmed CD were included. RESULTS: The median age of the 113 included children was 9.9 years, the median age at symptom onset was 5.5 years and the median age at diagnosis was 7 years, the median time between the presentation and the final diagnosis was 1 year. Sixty two of the involved children were females. Ninety two percent of the patients were symptomatic at the diagnosis while eight percent were asymptomatic. The commonest presenting symptoms included: chronic abdominal pain (59.3%), poor weight gain (54%), abdominal distention, gases, bloating (46.1%) and chronic diarrhea (41.6%). Sixty percent of the involved children were reported to be strictly adherent to GFD. Younger age at diagnosis and shorter duration since the diagnosis were associated with a better adherence rate. CONCLUSION: CD has similar clinical presentations among Saudi children compared to other parts of the ward; however, the adherence to GFD is relatively poor. Younger age at diagnosis and shorter duration since the diagnosis were associated with a better adherence rate.

A novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure.

We describe in this report the clinical, biochemical, and molecular features of a Saudi infant with hepatocerebral MDS secondary to a novel homozygous mutation in the MPV17 gene. An automated sequencing of the nuclear MPV17 gene was performed. The coding region (7 exons) of the MPV17 gene was amplified using an M13-tagged intronic primer and screened by direct sequencing of the PCR-amplified products (GenBank Association Number NM_002437.4). The sequencing of the entire coding region and intron-exon boundaries of MPV17 gene revealed a single homozygous variant, -c.278A > C(p.Q93P), which predicts the substitution of a highly conserved amino acid. This particular sequence variant has not been previously reported as a single-nucleotide polymorphism (SNP) or pathogenic mutation. Diagnostic workup for neonatal liver disorders should include mutation screening for known genes. The new advances in molecular genetics can help clinicians establish the diagnosis in a timely fashion, which may prevent a child from undergoing invasive and expensive investigations.