UNASSIGNED: X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency disorder characterized by recurrent infections, severe hypogammaglobulinemia, and a deficiency of circulating B cells. While the hallmark clinical manifestations of XLA typically include the respiratory, dermatological, and gastrointestinal systems, renal involvement is infrequent. In this article, we report two cases of XLA with concurrent renal disease, supplemented with a review of documented cases.
UNASSIGNED: The two cases described involve twin brothers, both presenting with respiratory tract infections and renal manifestations. Subsequent genetic testing confirmed the diagnosis of XLA. The younger brother exhibited improvement following intravenous immunoglobulin (IVIG) therapy and anti-infection treatment. Due to financial constraints, the older brother received only anti-infection and symptomatic treatments. Seven months after discharge, the older brother developed nephritis. However, he showed improvement following IVIG treatment.
UNASSIGNED: Immune profiling and genetic testing should be considered in male children with recurrent infections to facilitate the effective diagnosis of XLA. Regular monitoring is also imperative to detect and treat immune-mediated renal diseases in patients with XLA.

We report the case of a patient who exhibits a concurrent diagnosis of type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease. A 27-year-old male patient was diagnosed with Gitelman syndrome at the age of 3 years. Fourteen years later, he developed an autoantibody-negative type 1 diabetes mellitus. Cacci-Ricci\'s disease was revealed by terminal hematuria and considered in view of the appearance found on the computed tomography (CT) scan. The finger-prick blood glucose level was 6 g/dl with no acetonuria. Creatinine clearance was 60 ml/min. Thyroid function tests were normal. Calcium, phosphorus and parathormone (PTH) levels were normal. Discussion: Gitelman syndrome is a rare disorder. The association between Gitelman syndrome and type 1 diabetes mellitus has been reported in the literature in two patients. Authors have investigated the association between Gitelman syndrome and type 2 diabetes mellitus. Several pathophysiological explanations have been put forward. Cacci-ricci disease is a rare, benign congenital anomaly. No association between type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease has been reported in the literature. To our knowledge, this is the first case described in the literature.

[This corrects the article DOI: 10.3389/fgene.2023.1122893.].

This case report describes the positive interference of the commonly used skin protective barrier cream used together with urine collection bags on the benzethonium chloride method for urine protein measurements in a 6-month-old female baby, leading to falsely elevated results. The interference was identified by both artificially mixing urine samples with this cream and comparing the results obtained using the benzethonium chloride method with those obtained using the pyrogallol red method.

Background: Anderson-Fabry disease (AFD) is an X-linked disease that results from reduced activity of the enzyme galactosidase alpha (GLA). When the GLA gene sequence is altered by mutations that alter the normal DNA sequence, variants of the alpha-galactosidase A enzyme are produced, which may or may not function. These mutations are responsible for Fabry disease, and to date, over 800 different mutations of the gene have been described in patients with Anderson-Fabry disease. In this case, we report the case of a woman who is the sole family member with this type of mutation. Case presentation: We report a case of a 52-year-old woman with end-stage chronic kidney disease in dialysis treatment. The patient\'s alpha-galactosidase activity was 6.6 nmol/ml/h in whole blood, and lyso-GB3 levels were 11.45 nmol/L (normal range < 2.3 nmol/L). Alpha-galactosidase A gene sequence analysis revealed a pathogenic variant of c.947dupT in exon 6, leading to the p. I317NfsTer16 amino acid substitution. The genetic analysis did not detect the same mutation in any of the other screened family members. Conclusion: The international Fabry disease genotype-phenotype database (dbFGP) reports a pathogenic variant c.947dupT in exon 6 that is probably associated with a classical phenotype of Fabry disease. In this case report, we report the case of a woman who is the sole family member with this type of pathogenic variant. Similar situations have not been described in the literature for this pathogenic variant, and it represents an important case of inter- and intrafamilial variability in patients with Fabry disease. The literature shows that de novo pathogenic variants are frequently found in the context of Fabry disease.

UNASSIGNED: There may be a connection between pemphigus vulgaris and nephrotic syndrome, as evidenced by the occurrence of focal segmental glomerulosclerosis in our pemphigus vulgaris patient and reviewing relevant literature. Therefore, if a patient with pemphigus vulgaris presents with bilateral lower extremity edema or proteinuria detected during urinalysis, it could indicate involvement of the kidneys.
UNASSIGNED: Pemphigus vulgaris is a type of autoimmune blistering disease characterized by the presence of IgG autoantibodies against desmogleins 3 and 1. It is important to evaluate potential autoimmune associations in patients with pemphigus vulgaris so that appropriate laboratory and physical examinations can be performed to monitor for any increased risk of other autoimmune disorders. This case report describes a 55-year-old woman who presented with oral and axillary erosions, which were diagnosed as pemphigus vulgaris based on skin histopathology and immunofluorescence. During follow-up, the patient was found to have proteinuria, which led to referral to a nephrologist. The patient was diagnosed with nephrotic syndrome and minimal change disease after a biopsy. Despite treatment, the patient\'s proteinuria persisted and serum creatinine levels increased, leading to a second biopsy which confirmed the diagnosis of focal segmental glomerulosclerosis. This study reports on the first case of pemphigus vulgaris with focal segmental glomerulosclerosis and reviews the literature on the co-occurrence of acquired immunobullous diseases and nephrotic syndrome of any kind.

UNASSIGNED: Climate change is increasing the risks of injuries, diseases, and deaths globally. However, the association between ambient temperature and renal diseases has not been fully characterized. This study aimed to quantify the risk and attributable burden for hospitalizations of renal diseases related to ambient temperature.
UNASSIGNED: Daily hospital admission data from 1816 cities in Brazil were collected during 2000 and 2015. A time-stratified case-crossover design was applied to evaluate the association between temperature and renal diseases. Relative risks (RRs), attributable fractions (AFs), and their confidence intervals (CIs) were calculated to estimate the associations and attributable burden.
UNASSIGNED: A total of 2,726,886 hospitalizations for renal diseases were recorded during the study period. For every 1°C increase in daily mean temperature, the estimated risk of hospitalization for renal diseases over lag 0-7 days increased by 0·9% (RR = 1·009, 95% CI: 1·008-1·010) at the national level. The associations between temperature and renal diseases were largest at lag 0 days but remained for lag 1-2 days. The risk was more prominent in females, children aged 0-4 years, and the elderly ≥ 80 years. 7·4% (95% CI: 5·2-9·6%) of hospitalizations for renal diseases could be attributable to the increase of temperature, equating to 202,093 (95% CI: 141,554-260,594) cases.
UNASSIGNED: This nationwide study provides robust evidence that more policies should be developed to prevent heat-related hospitalizations and mitigate climate change.
UNASSIGNED: China Scholarship Council, and the Australian National Health and Medical Research Council.

Systemic oxalosis is a condition in which calcium oxalate crystals deposit into various bodily tissues. Although this may occur as the result of a rare primary syndrome in which an error of glyoxylate metabolism causes an overproduction of oxalate, it is more often seen as a secondary process characterized by increased enteric oxalate absorption. Here, we describe a patient with short bowel syndrome on long-term parenteral nutrition support who developed a unique manifestation of systemic oxalosis, leading to deposition of oxalate crystals within the bone marrow contributing to pancytopenia. In this report, in addition to reviewing the literature on this presumably rare manifestation of oxalosis, we also discuss its pathogenesis in the setting of short bowel syndrome and its management, including prevention.

Refractory hypertension is a challenge in End Stage Renal Disease (ESRD) patients who are on regular hemodialysis, despite the use of novel antihypertensive agents and tailor-made dialysis prescriptions. Bilateral nephrectomy seems to be a forgotten option. We present a case history of 16 year old boy who underwent open bilateral nephrectomy as a rescue therapy for refractory hypertension. This surgical treatment option of blood pressure led to satisfactory control of hitherto refractory hypertension complicated with multiple life-threatening episodes of hypertensive crises.

Rapidly progressive glomerulonephritis (RPGN) is a rare syndrome which is marked by a sudden rise in serum creatinine and the presence of crescents on renal biopsy. If appropriate and timely treatment is not instituted, as many as 90% of affected patients may develop End Stage Renal Disease (ESRD). There is only limited access to renal replacement therapy in many low resource countries, thus it is important that awareness of this entity is raised. We narrate the clinical course of two children who were admitted with rising serum creatinine, hypertension and haematuria and who were subsequently diagnosed with crescentic glomerulonephritis on biopsy. Despite having received immunosuppressive therapy, both children had a poor renal outcome, perhaps due to delays in institution of appropriate treatment. It is imperative that all clinicians who manage children are made aware of this clinical syndrome so that timely referrals to nephrology are done. This will help to improve renal outcomes.