Background
Primary hyperoxaluria (PH) results from genetic mutations in different genes of glyoxylate metabolism, which cause significant increases in production of oxalate by the liver. This study ...aimed to report clinical and laboratory manifestations and outcome of PH type 1 in children in our center.
Methods
A single-center observational cohort study was conducted at Children’s University Hospital in Damascus, and included all patients admitted from 2018 to 2020, with a diagnosis of hyperoxaluria (urinary oxalate excretion > 45 mg/1.73 m
2
/day, or > 0.5 mmol/1.73 m
2
/day). PH type 1 (PH1) diagnosis was established by identification of biallelic pathogenic variants (compound heterozygous or homozygous mutations) in
AGXT
gene on molecular genetic testing.
Results
The study included 100 patients with hyperoxaluria, with slight male dominance (57%), and median age 1.75 years (range, 1 month–14 years). Initial complaint was urolithiasis or nephrocalcinosis in 47%, kidney failure manifestations in 29%, and recurrent urinary tract infection in 24%.
AGXT
mutations were detected in 40 patients, and 72.5% of PH1 patients had kidney failure at presentation. Neither gender, age nor urinary oxalate excretion in 24 h had statistical significance in distinguishing PH1 from other forms of hyperoxaluria (P-Value > 0.05). Parental consanguinity, family history of kidney stones, bilateral nephrocalcinosis, presence of oxalate crystals in random urine sample, kidney failure and mortality were statistically significantly higher in PH1 (P-values < 0.05). Mortality was 32.5% among PH1 patients, with 4 PH1 patients (10%) on hemodialysis awaiting combined liver–kidney transplantation.
Conclusion
PH1 is still a grave disease with wide variety of clinical presentations which frequent results in delays in diagnosis, thus kidney failure is still a common presentation. In Syria, we face many challenges in diagnosis of PH, especially PH2 and PH3, and in management, with hopes that diagnosis tools and modern therapies will become available in our country.
Graphical abstract
A higher resolution version of the Graphical abstract is available as
Supplementary information
.
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DOBA, EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, IZUM, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, SIK, UILJ, UKNU, UL, UM, UPUK, VKSCE, VSZLJ, ZAGLJ
Systemic Lupus Erythematosus (SLE) is a chronic multisystem autoimmune disease. Serositis occurs in 16% of SLE patients, and while cardiac tamponade and acute peritonitis with ascites can occur ...during the course of the disease, they are rare as the first presentation. A 25-year-old woman presented to the emergency department in Tishreen Hospital with complaints of dyspnea, fever, chills, and chest and abdominal pain. Two months prior, she suffered from musculoskeletal pain, fatigue, anorexia, weight loss of about 15 kg, severe hair loss, and recurrent oral aphthous. On clinical examination, the patient was pale and tired with dyspnea and pitting edema (grade 3–4). Pericardiocentesis was emergently performed because there were signs of cardiac tamponade. Three days later, the patient developed an acute surgical abdomen due to acute peritonitis and ascites. Later, the patient was diagnosed with SLE after excluding malignant and infectious diseases. Consequently, methylprednisolone pulses, azathioprine, and hydroxychloroquine 200 mg/day were introduced immediately. The clinical status of the patient dramatically improved, and three months later, the patient was symptom-free with normal laboratory tests. In conclusion, although cardiac tamponade and acute surgical abdomen because of acute peritonitis and ascites as the initial presentation of SLE are very rare, they can occur coincidently.
Characterization of the molecular basis of primary hyperoxaluria type 1 (PH-1) in Syria has been accomplished through the analysis of 90 unrelated chromosomes from 45 Syrians patients with PH-1 from ...different regions.
Alanine glyoxylate aminotransferase (AGXT) gene mutations have been analyzed by using molecular detection methods based on the direct DNA sequencing for all exons of the AGXT gene.
Seventeen pathogenic mutations were detected in our patients. Six mutations were novels. The three most frequent mutations were c.33_34insC (p.Lys12fs) in Exon 1, c.584 T < G; p.Met195Arg in exon 5 and c.1007 T > A (p.Val336Asp) in exon 10, with a frequency of 33.3%, 12.2%, and 11.1%, respectively.
DNA sequencing used in this study can offer a useful method to investigate the mutations in Syrian PH-1 patients, and could offer an accurate tool for prenatal diagnosis and genetic counseling.
Full text
Available for:
IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Full text
Available for:
GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
5.
Urinary stone disease in Syrian children Klib, Mohamad; Ghandour, Munir; Wannous, Hala
Pediatric nephrology (Berlin, West),
08/2023, Volume:
38, Issue:
8
Journal Article
Peer reviewed
Background
Pediatric urinary stone disease (USD) is a costly medical problem. This study aims to assess the clinical characteristics and outcomes of common and rare causes of pediatric USD.
Methods
A ...retrospective descriptive cohort study included all children < 13 years of age with confirmed USD admitted to the Children’s University Hospital in Damascus, Syria, from January 2013 to December 2019. The study sample was divided into two groups based on etiologies: common and rare causes groups.
Results
We evaluated 235 patients; 147 of them were males, and the male-to-female ratio was 1.7:1. The common causes group consisted of 203 patients (mean age 3.52 ± 3.66 years) and mainly included metabolic disorders (45.5%) and anatomical abnormalities (22.3%), while the rare causes group included 32 cases (mean age 4.93 ± 4.08 years), 12 patients with uric acid stones (37.5%), 7 patients with cystinuria (21.9%), and primary hyperoxaluria in 5 patients (15.6%). In addition, 39.6% of study patients were born to consanguineous marriages. Sixty-two patients developed AKI, and eleven patients had chronic kidney disease (CKD). Patients with rare causes were more likely to have AKI, CKD, bilateral stones, and recurrent stones (
P
-value < 0.05). Stone analysis was performed on 83 patients, and the main stone types were calcium oxalate (34.9%), uric acid (14.4%), and struvite stones (12%). Surgery was the most performed treatment in 101 patients (56.7%).
Conclusion
Patients with rare causes of pediatric USD are at a higher risk for severe complications and require early diagnosis and management. The high rate of uric acid stones in our society requires further evaluation for possible underlying causes.
Graphical abstract
A higher resolution version of the Graphical abstract is available as
Supplementary information
Full text
Available for:
DOBA, EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, IZUM, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, SIK, UILJ, UKNU, UL, UM, UPUK, VKSCE, VSZLJ, ZAGLJ
To explore the gender-related differences in axial spondyloarthritis (axSpA) patients.
Seventy-six male and 38 female patients with axSpA were assessed regarding disease characteristics and ...treatment. Disease activity, functional and radiologic severity index were measured using the Bath ankylosing spondylitis disease activity index (BASDAI), Bath ankylosing spondylitis functional index (BASFI), Bath ankylosing spondylitis radiology index (BASRI-s) respectively, and enthesitis was assessed using Maastricht Ankylosing Spondylitis Enthesitis Score (MASES).
The mean age of the patients was 37.8 ± 10 years with a male: female ratio (2:1). Females had more delay in diagnosis (9.2 ± 3.9 years vs males 6.7 ± 3.4 years; p < 0.001) and they had enthesitis, peripheral arthritis, widespread pain and fibromyalgia as initial presentations more often than males. The mean BASDAI and BASFI was higher in females (6.3 ± 1.3 vs 5.2 ± 1.4; p < 0.001 and 6.1 ± 1.4 vs 5.3 ± 1.3; p = 0.003 respectively). Enthesitis increased in females (n = 18, 47% vs n = 12, 15.8%; p < 0.001) with higher MASES than men (3.7 ± 4 vs 1.8 ± 2; p < 0.001).Peripheral arthritis was markedly higher in females (n = 15, 39.5%vs n = 16, 21.1%; p = 0.03).Females more frequently used methotrexate and sulphasalazine (p = 0.003). BASRI-s and sacroiliitis grading were higher in males (7.2 ± 1.9 vs 4.6 ± 1.9; p < 0.001 and 3 ± 0.6 vs 2 ± 0.3; p < 0.001 respectively) with cervical syndesmophyte predominance in females (p = 0.005).
The clinical and initial presentations differ between the two genders and the disease activity, functional limitation, and enthesitis score are higher in females. While radiologic severity is worse in men, there is predominant cervical spine involvement in women.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Atypical hemolytic uremic syndrome (aHUS) is a rare, progressive, life-threating disease that frequently has a genetic component; it is usually caused by familial, sporadic or idiopathic reasons. We ...report a case of aHUS in a 21-month-old girl with coexisting of methylenetetrahydrofolate reductase mutations, homocysteinemia and thalassemia minor complicated by peripheral gangrene as extrarenal manifestation.
Aim
Henoch‐Schonlein purpura (HSP) is a common cause of paediatric renal disease in children, representing 10–15% of paediatric glomerulonephritis. This study examined the long‐term outcome of ...biopsy‐proven HSP nephritis to identify correlations between disease development and treatment.
Methods
Patients from three French centres were retrospectively analysed.
Results
We followed up 142 patients aged from 2 to 10.5 years with HSP nephritis, graded according to the International Study Group of Kidney Disease in Childhood classification. Mean (±SD) age at presentation was 7.6 ± 2.8 years. Nephrotic range proteinuria was present in 28% of patients with Grade II lesions, 60% with Grade III and 90% with Grade IV. Significant proteinuria (>0.5 g/L) was found in nine of 48 patients 3 years after renal biopsy, eight of 25 patients after 5 years and three of 14 patients after 10 years. There was no correlation between the proteinuria risk at 3, 5 or 10 years and the initial histological lesion or treatment modality. Treatment with angiotensin‐converting enzyme inhibitors/angiotensin receptor blockers (ACEi/ARB) was linked to lower proteinuria, especially if it was started precociously.
Conclusion
Even mild forms of HSP nephritis risk significant long‐term proteinuria. Very early introduction of ACEi/ARB may improve the long‐term outcome independent of histological lesions.
Full text
Available for:
BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
Abstract
Aim
Henoch‐
S
chonlein purpura (
HSP
) is a common cause of paediatric renal disease in children, representing 10–15% of paediatric glomerulonephritis. This study examined the long‐term ...outcome of biopsy‐proven
HSP
nephritis to identify correlations between disease development and treatment.
Methods
Patients from three
F
rench centres were retrospectively analysed.
Results
We followed up 142 patients aged from 2 to 10.5 years with
HSP
nephritis, graded according to the
I
nternational
S
tudy
G
roup of
K
idney
D
isease in
C
hildhood classification. Mean (±
SD
) age at presentation was 7.6 ± 2.8 years. Nephrotic range proteinuria was present in 28% of patients with
G
rade
II
lesions, 60% with
G
rade
III
and 90% with
G
rade
IV
. Significant proteinuria (>0.5 g/L) was found in nine of 48 patients 3 years after renal biopsy, eight of 25 patients after 5 years and three of 14 patients after 10 years. There was no correlation between the proteinuria risk at 3, 5 or 10 years and the initial histological lesion or treatment modality. Treatment with angiotensin‐converting enzyme inhibitors/angiotensin receptor blockers (
ACE
i/
ARB
) was linked to lower proteinuria, especially if it was started precociously.
Conclusion
Even mild forms of
HSP
nephritis risk significant long‐term proteinuria. Very early introduction of
ACE
i/
ARB
may improve the long‐term outcome independent of histological lesions.
Full text
Available for:
BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
The highest financial and symptom burdens and the lowest health-related quality-of-life scores are seen in people with kidney failure. A total of 11 countries in the International Society of ...Nephrology (ISN) Middle East region responded to the ISN-Global Kidney Health Atlas. The prevalence of chronic kidney disease (CKD) in the region ranged from 4.9% in Yemen to 12.2% in Lebanon, whereas prevalence of kidney failure treated with dialysis or transplantation ranged from 152 per million population (pmp) in the United Arab Emirates to 869 pmp in Kuwait. Overall, the incidence of kidney transplantation was highest in Saudi Arabia (20.2 pmp) and was lowest in Oman (2.2 pmp). Chronic hemodialysis (HD) and peritoneal dialysis (PD) services were available in all countries, whereas kidney transplantation was available in most countries of the region. Public government funding that makes acute dialysis, chronic HD, chronic PD, and kidney transplantation medications free at the point of delivery was available in 54.5%, 72.7%, 54.5%, and 54.5% of countries, respectively. Conservative kidney management was available in 45% of countries. Only Oman had a CKD registry; 7 countries (64%) had dialysis registries, and 8 (73%) had kidney transplantation registries. The ISN Middle East region has a high burden of kidney disease and multiple challenges to overcome. Prevention and detection of kidney disease can be improved by the design of tailored guidelines, allocation of additional resources, improvement of early detection at all levels of care, and implementation of sustainable health information systems.
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