-
Cureus Jan 2024A 13-year-old boy presented with hypoxia, microscopic hematuria, and elevated blood pressures. Persistent microscopic hematuria and hypertension led to investigation of...
A 13-year-old boy presented with hypoxia, microscopic hematuria, and elevated blood pressures. Persistent microscopic hematuria and hypertension led to investigation of glomerular and non-glomerular causes of hematuria. After reviewing his clinical course, family history, and laboratory testing, an additional test was sent, revealing the diagnosis.
PubMed: 38384656
DOI: 10.7759/cureus.52738 -
Kidney International May 2024Individualized pre-pregnancy counseling and antenatal care for women with chronic kidney disease (CKD) require disease-specific data. Here, we investigated pregnancy...
Individualized pre-pregnancy counseling and antenatal care for women with chronic kidney disease (CKD) require disease-specific data. Here, we investigated pregnancy outcomes and long-term kidney function in women with COL4A3-5 related disease (Alport Syndrome, (AS)) in a large multicenter cohort. The ALPART-network (mAternaL and fetal PregnAncy outcomes of women with AlpoRT syndrome), an international collaboration of 17 centers, retrospectively investigated COL4A3-5 related disease pregnancies after the 20th week. Outcomes were stratified per inheritance pattern (X-Linked AS (XLAS)), Autosomal Dominant AS (ADAS), or Autosomal Recessive AS (ARAS)). The influence of pregnancy on estimated glomerular filtration rate (eGFR)-slope was assessed in 192 pregnancies encompassing 116 women (121 with XLAS, 47 with ADAS, and 12 with ARAS). Median eGFR pre-pregnancy was over 90ml/min/1.73m. Neonatal outcomes were favorable: 100% live births, median gestational age 39.0 weeks and mean birth weight 3135 grams. Gestational hypertension occurred during 23% of pregnancies (reference: 'general' CKD G1-G2 pregnancies incidence is 4-20%) and preeclampsia in 20%. The mean eGFR declined after pregnancy but remained within normal range (over 90ml/min/1.73m). Pregnancy did not significantly affect eGFR-slope (pre-pregnancy β=-1.030, post-pregnancy β=-1.349). ARAS-pregnancies demonstrated less favorable outcomes (early preterm birth incidence 3/11 (27%)). ARAS was a significant independent predictor for lower birth weight and shorter duration of pregnancy, next to the classic predictors (pre-pregnancy kidney function, proteinuria, and chronic hypertension) though missing proteinuria values and the small ARAS-sample hindered analysis. This is the largest study to date on AS and pregnancy with reassuring results for mild AS, though inheritance patterns could be considered in counseling next to classic risk factors. Thus, our findings support personalized reproductive care and highlight the importance of investigating kidney disease-specific pregnancy outcomes.
Topics: Female; Humans; Pregnancy; Infant, Newborn; Infant; Pregnancy Outcome; Nephritis, Hereditary; Birth Weight; Retrospective Studies; Premature Birth; Pregnancy Complications; Renal Insufficiency, Chronic; Proteinuria; Counseling
PubMed: 38382843
DOI: 10.1016/j.kint.2024.01.034 -
Saudi Journal of Kidney Diseases and... Jul 2023Data about the prevalence of biopsy-proven kidney diseases in Iran are rare, and none of the previous studies used electron microscopy for diagnosis. This study aimed to...
Data about the prevalence of biopsy-proven kidney diseases in Iran are rare, and none of the previous studies used electron microscopy for diagnosis. This study aimed to analyze the prevalence of biopsy-proven kidney diseases in Iran's primary referral center. To the best of our knowledge, this is the most extensive study carried out in Iran. Reports of kidney biopsy samples from patients referred to our center in 2007-2018 were reviewed for demographic data, clinical presentation, and final diagnosis. Statistical analyses were performed. Among the 3455 samples received, 2975 were analyzed. Nephrotic syndrome (39%) was the most common cause of biopsy, followed by subnephrotic proteinuria (18%), hematuria in association with proteinuria (15%), renal failure (9%), isolated hematuria (6%), and lupus nephritis (LN) (4%). The most common diagnoses were membranous glomerulonephritis (17.9%), focal segmental glomerulosclerosis (FSGS) (15.9%), LN (13.7%), minimal histopathological findings (unsampled FSGS vs. minimal change disease, 12.1%), Immunoglobin A nephropathy (IgAN) (6.5%) and Alport syndrome (6.1%). NS and proteinuria were the most common indications for a kidney biopsy. IgAN and LN were the most common causes of primary and secondary glomerulonephritis, presenting with hematuria and proteinuria, respectively. Although membranous glomerulonephritis was the most common disease, it has been replaced by FSGS in recent years.
Topics: Humans; Kidney; Glomerulonephritis, Membranous; Glomerulosclerosis, Focal Segmental; Hematuria; Iran; Kidney Diseases; Biopsy; Lupus Nephritis; Proteinuria; Nephritis, Hereditary; Retrospective Studies
PubMed: 38345590
DOI: 10.4103/1319-2442.395451 -
Cureus Jan 2024Dialysis in pediatric groups is complicated by a wide range of factors that can affect long-term prognosis. The purpose of this meta-analysis and systematic review is to... (Review)
Review
Dialysis in pediatric groups is complicated by a wide range of factors that can affect long-term prognosis. The purpose of this meta-analysis and systematic review is to better understand the demographic and clinical factors that affect dialysis success in children. We searched a variety of databases for relevant articles and included 14 reports that dealt with the case studies of pediatric patients undergoing dialysis for a wide range of renal diseases. Patients' demographics, clinical presentations, laboratory findings, and treatment outcomes were the primary areas of data collection. To get a better sense of the overall prevalence of certain outcomes and to spot noteworthy trends or patterns in the disease process, we conducted a meta-analysis. Variations in dialysis efficacy and outcomes are highlighted throughout a wide range of ages in the pediatric dialysis cohort, from neonates to teenagers. Acute kidney injuries (AKI) tended to impact more boys, but chronic kidney diseases (CKD), such as lupus nephritis, disproportionately afflicted girls. Many different ethnic groups were represented, and there was evidence that some diseases having a hereditary component were more common in some areas than others. However, the potential for long-term consequences remained a concern. Hemodialysis was found to be effective in controlling end-stage renal disease (ESRD) and AKI, with some patients going on to have a kidney transplant. At the same time, peritoneal dialysis was associated with an increased risk of infection. This comprehensive analysis highlights the importance of demographic and clinical parameters in determining pediatric dialysis outcomes. A 14.47% mortality rate and gender disparities are revealed by this meta-analysis of pediatric renal diseases, which included a cohort of 235 patients with conditions like lupus nephritis and hepatitis C infection. The findings stress the necessity for individualized treatment techniques and suggest that demographic characteristics should be addressed in prognostic models. For better patient outcomes, the study also suggests standardized reporting in pediatric dialysis studies.
PubMed: 38344624
DOI: 10.7759/cureus.51978 -
International Journal of Molecular... Jan 2024Between 15-20% of patients with end stage renal disease (ESRD) do not know the cause of the primary kidney disease and can develop complications after kidney...
Between 15-20% of patients with end stage renal disease (ESRD) do not know the cause of the primary kidney disease and can develop complications after kidney transplantation. We performed a genetic screening in 300 patients with kidney transplantation, or undiagnosed primary renal disease, in order to identify the primary disease cause and discriminate between overlapping phenotypes. We used a custom-made panel for next-generation sequencing (Agilent technology, Santa Clara, CA, USA), including genes associated with Fabry disease, podocytopaties, complement-mediated nephropathies and Alport syndrome-related diseases. We detected candidate diagnostic variants in genes associated with nephrotic syndrome and Focal Segmental Glomerulosclerosis (FSGS) in 29 out of 300 patients, solving about 10% of the probands. We also identified the same genetic cause of the disease (: c.1266dupC) in three family members with different clinical diagnoses. Interestingly we also found one female patient carrying a novel missense variant, c.1259C>A (p.Thr420Lys), in the gene not previously associated with Fabry disease, which is in silico defined as a likely pathogenic and destabilizing, and associated with a mild alteration in GLA enzymatic activity. The identification of the specific genetic background may provide an opportunity to evaluate the risk of recurrence of the primary disease, especially among patient candidates living with a donor kidney transplant.
Topics: Humans; Female; Kidney Transplantation; Fabry Disease; Genetic Testing; Kidney Diseases; Kidney; Glomerulosclerosis, Focal Segmental
PubMed: 38338714
DOI: 10.3390/ijms25031436 -
Lin Chuang Er Bi Yan Hou Tou Jing Wai... Jan 2024To investigate long-term auditory changes and characteristics of Alport syndrome(AS) patients with different degrees of renal injury. Retrospectively analyzing...
To investigate long-term auditory changes and characteristics of Alport syndrome(AS) patients with different degrees of renal injury. Retrospectively analyzing clinical data of patients diagnosed AS from January 2007 to September 2022, including renal pathology, genetic detection and hearing examination. A long-term follow-up focusing on hearing and renal function was conducted. This study included 70 AS patients, of which 33(25 males, 8 females, aged 3.4-27.8 years) were followed up, resulting in a loss rate of 52.9%.The follow-up period ranged from 1.1to 15.8 years, with 16 patients followed-up for over 10 years. During the follow-up, 10 patients presenting with hearing abnormalities at the time of diagnosis of AS had progressive hearing loss, and 3 patients with new hearing abnormalities were followed up, which appeared at 5-6 years of disease course. All of which were sensorineural deafness. While only 3 patients with hearing abnormalities among 13 patients received hearing aid intervention. Of these patients,7 developed end-stage renal disease(ESRD), predominantly males (6/7). The rate of long-term hearing loss was significantly different between ESRD group and non-ESRD group(=0.013). There was no correlation between the progression of renal disease and long-term hearing level(>0.05). kidney biopsies from 28 patients revealed varying degrees of podocyte lesion and uneven thickness of basement membrane. The severity of podocyte lesion was correlated with the rate of long-term hearing loss(=0.048), and there was no correlation with the severity of hearing loss(>0.05). mutationwas most common (8 out of 11), but there was no significant correlation between the mutation type and hearing phenotype(>0.05). AS patients exhibit progressive hearing loss with significant heterogeneity over the long-term.. THearing loss is more likely to occur 5-6 years into the disease course. Hearing abnormalities are closely related to renal disease status, kidney tissue pathology, and gene mutations, emphasizing the need for vigilant long-term hearing follow-up and early intervention.
Topics: Male; Child; Female; Humans; Nephritis, Hereditary; Retrospective Studies; Kidney; Deafness; Hearing Loss; Kidney Failure, Chronic; Mutation
PubMed: 38297848
DOI: 10.13201/j.issn.2096-7993.2024.01.007 -
Global Pediatric Health 2024. Characteristics of X-linked Alport syndrome (XLAS) in a cohort of Chinese children. . This work is a retrospective study covering the clinical information,...
. Characteristics of X-linked Alport syndrome (XLAS) in a cohort of Chinese children. . This work is a retrospective study covering the clinical information, pathological data, and gene sequencing results of 32 cases with XLAS from 2011 to 2022. . Among these 32 patients, the youngest age of onset was 3 months. Renal biopsy was performed on 29 children. The lamellated glomerular basement membrane was observed in 19 children using electron microscopy (65.5%). Of the 26 samples tested, 73.1% were found to be negative for collagen-a5 under immunohistochemical staining, showing clinical significance. Next-generation sequencing (NGS) detected 27 pathogenic gene mutations. A total of 15.4% of patients carried de novo mutations. . The boys with XLAS showed more typical pathological performance than the girls. Patients with severe mutation were more likely to have proteinuria and hearing impairment. Renal pathology combined with NSG is an important means of diagnosis of AS.
PubMed: 38249544
DOI: 10.1177/2333794X231221935 -
Taiwan Journal of Ophthalmology 2023The crystalline lens is an important structure in the eye that starts to develop as early as the 22 day of gestation, with further differentiation that continues after... (Review)
Review
The crystalline lens is an important structure in the eye that starts to develop as early as the 22 day of gestation, with further differentiation that continues after the induction. Congenital anomalies of the lens may involve the size, shape, and position of the lens. They may sometimes be associated with anterior segment dysgenesis or persistence of the tunica vasculosa lentis and hyperplastic vitreous and hyaloid system. Manifestations of anomalies of the lens shape are usually seen in early or late childhood however may sometimes be delayed into adulthood based on the level of visual impairment or the presence or absence of any syndromic associations. While lens coloboma has more often been reported in isolation, the more commonly implicated genes include the PAX6 gene, lenticonus in particular anterior is often part of Alport syndrome with extra-ocular manifestations in the kidneys and hearing abnormalities due to mutations in the alpha 5 chain of the Type IV collagen gene. Recognition of these manifestations and obtaining a genetic diagnosis is an important step in the management. The level of visual impairment and amblyopia dictates the outcomes in patients managed either conservatively with optical correction as well as surgically where deemed necessary. This review discusses the various anomalies of the lens shape with its related genetics and the management involved in these conditions.
PubMed: 38249493
DOI: 10.4103/tjo.TJO-D-23-00076 -
Frontiers in Immunology 2023The Monocyte chemoattractant protein-1 (MCP-1), also referred to as chemokine ligand 2 (CCL2), belongs to the extensive chemokine family and serves as a crucial mediator... (Review)
Review
The Monocyte chemoattractant protein-1 (MCP-1), also referred to as chemokine ligand 2 (CCL2), belongs to the extensive chemokine family and serves as a crucial mediator of innate immunity and tissue inflammation. It has a notable impact on inflammatory conditions affecting the kidneys. Upon binding to its receptor, MCP-1 can induce lymphocytes and NK cells' homing, migration, activation, differentiation, and development while promoting monocytes' and macrophages' infiltration, thereby facilitating kidney disease-related inflammation. As a biomarker for kidney disease, MCP-1 has made notable advancements in primary kidney diseases such as crescentic glomerulonephritis, chronic glomerulonephritis, primary glomerulopathy, idiopathic proteinuria glomerulopathy, acute kidney injury; secondary kidney diseases like diabetic nephropathy and lupus nephritis; hereditary kidney diseases including autosomal dominant polycystic kidney disease and sickle cell kidney disease. MCP-1 not only predicts the occurrence, progression, prognosis of the disease but is also closely associated with the severity and stage of nephropathy. When renal tissue is stimulated or experiences significant damage, the expression of MCP-1 increases, demonstrating a direct correlation with the severity of renal injury.
Topics: Humans; Chemokine CCL2; Glomerulonephritis; Lupus Nephritis; Diabetic Nephropathies; Biomarkers; Inflammation
PubMed: 38239353
DOI: 10.3389/fimmu.2023.1303076 -
Clinical Case Reports Jan 2024This case report describes the clinical course of a juvenile female with FGF23-related hypophosphatemic rickets preceding the onset of SLE. Our study demonstrates the...
KEY CLINICAL MESSAGE
This case report describes the clinical course of a juvenile female with FGF23-related hypophosphatemic rickets preceding the onset of SLE. Our study demonstrates the possibility of hypophosphatemic rickets as an early symptom of SLE.
ABSTRACT
Fibroblast growth factor 23 (FGF23)-related hypophosphatemic rickets is observed in both genetic and acquired disorders. Various reports describe FGF23-related hypophosphatemia with systemic lupus erythematosus (SLE), although FGF23-related hypophosphatemia preceding the onset of SLE has never been described. Here, we report the case of a 9-year-old female with FGF23-related hypophosphatemic rickets preceding the onset of SLE. The patient presented to us with arthralgia in the lower extremities and abnormality of gait lasting for 8 months. She was diagnosed with FGF23 hypophosphatemic rickets due to the presence of hypophosphatemic rickets symptoms and high serum levels of FGF23. Additional examination excluded hereditary diseases and tumor-induced osteomalacia. Three months after diagnosis of FGF23-related hypophosphatemic rickets, she developed nephritis and was diagnosed with SLE. She was treated with prednisolone, hemodialysis, and disease-modifying drugs, as well as oral sodium phosphate to improve hypophosphatemia. Serum anti-double-stranded DNA antibody (dsDNAab) and plasma tumor necrosis factor-α (TNF-α) were elevated at FGF23-related hypophosphatemic rickets diagnosis. During the clinical course, serum FGF23 correlated with dsDNAab and TNF-α serum levels, which are involved in SLE disease activity. In this case, FGF23-related hypophosphatemic rickets without hereditary diseases or tumor-induced osteomalacia occurred before the appearance of juvenile SLE symptoms, and serum FGF23 represented disease activity in SLE.
PubMed: 38223518
DOI: 10.1002/ccr3.8420