scholarly journals Evaluation of Clinical and Follow-up Results of Patients with Congenital Nephrotic Syndrome

2021 ◽  
pp. 97-100
Author(s):  
Hülya Nalçacıoğlu ◽  
Demet Tekcan ◽  
Hülya Gözde Önal ◽  
Özlem Aydoğ
Keyword(s):  
Nephrotic Syndrome ◽  
Clinical Laboratory ◽  
Congenital Nephrotic Syndrome ◽  
Homozygous Mutation ◽  
Dialysis Treatment ◽  
Filtration Barrier ◽  
Management Of Complications ◽  
Genes Encoding ◽  
History Of

Congenital nephrotic syndrome (CNS) is characterized by severe proteinuria, hypoalbuminemia, and edema within the first three months of life. Congenital nephrotic syndrome can occur due to perinatal infections or mutation of genes encoding structural or regulatory proteins of the glomerular filtration barrier. Treatment includes albumin infusions, nephrectomy, dialysis, and transplantation. In this study, we aimed to evaluate the demographic, clinical, and follow-up results of patients with CNS followed up in our center between 2010 and 2020. Demographic, clinical, laboratory values of 8 patients diagnosed with CNS between 2010 and 2020, kidney biopsy results, genetic examinations, and follow-up results were retrospectively evaluated. A total of 8 patients (4 girls) were included in this study. The median age at diagnosis was 36 days (3 days-8 months) and the follow-up period was 34 months (7-114 months). There was a history of prematurity and consanguinity in 5 patients. Edema was detected at the admission of all patients. Albumin infusion and captopril therapy were started from the diagnosis. No pathology was seen in the tests for perinatal infection, and ultrasonographic examinations were normal. In the genetic analysis, NPHS1 (Nephrin) homozygous mutation was detected in six patients, and coenzyme Q2 mutation was detected in one patient. Peritoneal dialysis treatment was performed in four patients during the follow-up, and unilateral nephrectomy was completed in one patient. During the follow-up, four of eight patients (three due to sepsis while on dialysis, one on the postoperative after the first day of transplantation) died. Three patients are followed up with kidney transplantation and one with supportive treatment. According to our results, most CNS cases are genetic, and nephrin mutation is the most common cause. Management of complications in CNS is crucial for patient surviva

scholarly journals Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the ALOX12B gene: A Novel Association with Review of Literature

2020 ◽  
Author(s):  
Lesa Dawman ◽  
Anit Kaur ◽  
Ritambhra Nada ◽  
Soumalya Chakraborty ◽  
Sanjeev Handa ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Autosomal Recessive ◽  
Skin Lesions ◽  
Homozygous Mutation ◽  
Steroid Resistant ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Novel Association ◽  
History Of

AbstractNephrotic syndrome (NS) associated with autosomal recessive congenital ichthyosis (ARCI) is a rare association. We describe a 4-year-old boy with steroid-resistant NS (SRNS) who had a history of ichthyotic skin lesions since birth. Renal biopsy revealed focal segmental glomerulosclerosis (tip variant). The skin biopsy was consistent with the findings of ichthyosis. Next-generation sequencing revealed a homozygous pathogenic variant (c.1625_1626del) in the exon 12 of the ALOX12B gene, confirming the diagnosis of ARCI2. The ALOX12B gene belongs to the lipoxygenase family and has a pivotal role in the formation of lipid layers in the epidermis. Leukotrienes have a counter-regulatory effect within the inflamed glomeruli, which influences the vascular tone and glomerular basement membrane permeability, that can be implicated in the pathogenesis of the NS. This child is currently in remission, on tacrolimus and low-dose prednisolone, with emollients and is on regular follow-up. SRNS associated with congenital ichthyosis secondary to a mutation in the ALOX12B gene has never been reported so far. The knowledge regarding this novel association will help the treating physicians in diagnosing this condition early, which will enable proper genetic counseling and prognostication of the disease to the family.

Performance of the Surprise Question Compared to Prediction Models in Hemodialysis Patients: A Prospective Study

2017 ◽  
Vol 46 (5) ◽  
pp. 390-396 ◽  
Author(s):  
Rakesh Malhotra ◽  
Xia Tao ◽  
Yuedong Wang ◽  
Yuqi Chen ◽  
Rebecca H. Apruzzese ◽  
...  
Keyword(s):  
Linear Models ◽  
Prediction Models ◽  
Clinical Laboratory ◽  
Mortality Prediction ◽  
Operating Characteristics ◽  
Dialysis Treatment ◽  
Mortality Probability ◽  
A Prospective Study ◽  
Surprise Question

Background: The surprise question (SQ) (“Would you be surprised if this patient were still alive in 6 or 12 months?”) is used as a mortality prognostication tool in hemodialysis (HD) patients. We compared the performance of the SQ with that of prediction models (PMs) for 6- and 12-month mortality prediction. Methods: Demographic, clinical, laboratory, and dialysis treatment indicators were used to model 6- and 12-month mortality probability in a HD patients training cohort (n = 6,633) using generalized linear models (GLMs). A total of 10 nephrologists from 5 HD clinics responded to the SQ in 215 patients followed prospectively for 12 months. The performance of PM was evaluated in the validation (n = 6,634) and SQ cohorts (n = 215) using the areas under receiver operating characteristics curves. We compared sensitivities and specificities of PM and SQ. Results: The PM and SQ cohorts comprised 13,267 (mean age 61 years, 55% men, 54% whites) and 215 (mean age 62 years, 59% men, 50% whites) patients, respectively. During the 12-month follow-up, 1,313 patients died in the prediction model cohort and 22 in the SQ cohort. For 6-month mortality prediction, the GLM had areas under the curve of 0.77 in the validation cohort and 0.77 in the SQ cohort. As for 12-month mortality, areas under the curve were 0.77 and 0.80 in the validation and SQ cohorts, respectively. The 6- and 12-month PMs had sensitivities of 0.62 (95% CI 0.35–0.88) and 0.75 (95% CI 0.56–0.94), respectively. The 6- and 12-month SQ sensitivities were 0.23 (95% CI 0.002–0.46) and 0.35 (95% CI 0.14–0.56), respectively. Conclusion: PMs exhibit superior sensitivity compared to the SQ for mortality prognostication in HD patients.

Coeliac crisis mimicking nephrotic syndrome in a post-partum patient

2019 ◽  
Vol 64 (3) ◽  
pp. 116-118
Author(s):  
Özant Helvacı ◽  
Seyma Yıldız ◽  
Berfu Korucu ◽  
Ulver Derici ◽  
Turgay Arinsoy
Keyword(s):  
Nephrotic Syndrome ◽  
Coeliac Disease ◽  
Post Partum ◽  
Lower Extremity Weakness ◽  
Case Presentation ◽  
Multisystem Involvement ◽  
Life Threatening ◽  
History Of ◽  
Rare Occasion

Background Coeliac crisis is a life-threatening presentation of coeliac disease. Severe diarrhoea, weight loss, electrolyte imbalances and malnutrition are prominent features. Although mainly a disease of childhood, it can on the rare occasion be diagnosed in adults. Case presentation A 25-year-old female with severe generalised oedema, lower extremity weakness, hypokalemia and profound hypoalbuminemia was referred with an initial diagnosis of nephrotic syndrome. Three months previously she had given birth to a healthy child following an uneventful pregnancy. She did not have proteinuria. She had a history of diarrhoea with gluten-containing food since childhood but lacked a formal diagnosis of coeliac disease. A duodenal biopsy confirmed the suspected diagnosis. Coeliac crisis was diagnosed with life-threatening multisystem involvement. Introduction of a gluten-free diet abolished all disease symptoms and ameliorated laboratory parameters at six months’ follow-up. Conclusion Coeliac crisis is a rare, yet dangerous presentation of coeliac disease in adults. As this case suggests, it can present with generalised oedema and hypoalbuminemia mimicking nephrotic syndrome. Rapid diagnosis is the key to successful treatment.

Prognosis and acute complications at the first onset of idiopathic nephrotic syndrome in children: a nationwide survey in Japan (JP-SHINE study)

2019 ◽  
Author(s):  
Mai Sato ◽  
Kenji Ishikura ◽  
Takashi Ando ◽  
Kaori Kikunaga ◽  
Chikako Terano ◽  
...  
Keyword(s):  
Regression Analysis ◽  
Nephrotic Syndrome ◽  
Serum Albumin ◽  
Ocular Hypertension ◽  
Idiopathic Nephrotic Syndrome ◽  
Cox Regression Analysis ◽  
Management Of Complications ◽  
First Onset ◽  
Observation Period

Abstract Background Information on the epidemiology of idiopathic nephrotic syndrome (INS) in children, complications of INS and the side effects of steroid therapy is scarce. Methods The Japanese Pediatric Survey Holding Information of Nephrotic Syndrome, a nationwide cohort study, was conducted by the Japanese Study Group of Renal Disease in Children and enrolled 2099 children with newly diagnosed INS between 1 January 2010 and 31 December 2012. We conducted a follow-up study of the complications during the first onset and the patients’ prognosis in this cohort. Results We obtained follow-up data on 999 children (672 males) with a median age at onset of 4.5 years [interquartile range (IQR) 2.8–9.4] and a median follow-up period of 4.1 years (IQR 2.5–5.1). At the first onset, 24% of patients experienced severe acute kidney injury (AKI), defined as a serum creatinine increase to a level two or more times the baseline. On logistic regression analysis, age, hematuria, severe hypoalbuminemia (serum albumin <1.0 g/dL) and severe bacterial infection were not independent factors, but female sex {hazard ratio [HR] 1.5 [95% confidence interval (CI) 1.1–1.7]} and hypertension [HR 4.0 (95% CI 2.6–6.0)] were significantly related to AKI. During the observation period, ocular hypertension requiring treatment occurred in 17.4% of patients, among which 0.4% received surgical treatment. Progression to frequently relapsing nephrotic syndrome/steroid-dependent nephrotic syndrome in 3 years was seen in 44.2% of the patients and was shown by the Cox regression analysis to be significantly related to younger age and days until remission at the first episode, but not to sex, hematuria, the minimum serum albumin level or AKI. Two patients died during the observation period. One patient showed progression to end-stage kidney disease. Conclusion Based on the results of a multicenter questionnaire survey, the overall survival and renal survival rates were found to be excellent. However, proper management of complications, particularly in AKI and ocular hypertension, is mandatory.

scholarly journals Transjejunal Laparoscopic Assisted ERCP in a Patient with Roux-en-Y Hepaticojejunostomy

Medicina ◽  
2019 ◽  
Vol 55 (8) ◽  
pp. 483
Author(s):  
Baca-Arzaga ◽  
Navarro-Chavez ◽  
Galindo ◽  
Santibanez-Juarez ◽  
Cardosa-Gonzalez ◽  
...  
Keyword(s):  
Stone Disease ◽  
Endoscopic Management ◽  
Bilioenteric Anastomosis ◽  
Complex Anatomy ◽  
Laparoscopy Surgery ◽  
Management Of Complications ◽  
Intrahepatic Lithiasis ◽  
History Of ◽  
Laparoscopic Assisted

Background and Objectives: Nowadays, with the increasing laparoscopic expertise and accessibility to modern surgical tools, laparoscopic assisted ERCP (LAERCP) has become an effective approach for the management of bile stone disease in patients with modified gastrointestinal anatomy. In contrast to patients with gastric bypass in whom a transgastric LAERCP approach is usually performed, the resultant anatomy of Roux-en-Y hepaticojejunostomy precludes a gastric approach as the newly formed bilioenteric anastomosis is not reachable through the stomach. Therefore, a transjejunal approach has been described as an alternative LAERCP technique. To the best of our knowledge this is the tenth case of transjejunal LAERCP reported worldwide. Materials and Methods: We present the case of a 50-year-old female with history of biliary injury during a cholecystectomy corrected with Roux-en-Y hepaticojejunostomy who presented to our center with manifestations of acute abdomen. After laboratory and image analysis, diagnosis of intrahepatic lithiasis was confirmed. The decision to perform a transjejunal LAERCP was made due to the complex anatomy in this patient. No complications were found during surgery and in the follow up period. Conclusions: Transjejunal LAERCP is an effective approach for endoscopic management of biliary complications in patients with Roux-en-Y hepaticojejunostomy and other modified gastrointestinal anatomy. Previous recommendations by more experienced teams have been reported, nonetheless, there are too few cases reported to make definitive recommendations and conclusions. In limited settings, such as ours, some of these recommendations may not be applicable. We are certain that, with the increasing expertise and innovations in laparoscopy surgery for the management of complications that cannot be addressed by endoscopic or noninvasive measures, more cases will be reported.

scholarly journals Congenital nephrotic syndrome

2008 ◽  
Vol 136 (Suppl. 4) ◽  
pp. 307-311
Author(s):  
Natasa Stajic ◽  
Jovana Putnik ◽  
Aleksandra Paripovic ◽  
Slavisa Djuricic ◽  
Radovan Bogdanovic
Keyword(s):  
Nephrotic Syndrome ◽  
Molecular Genetic ◽  
Genetic Material ◽  
Congenital Nephrotic Syndrome ◽  
Recessive Mutation ◽  
Homozygous Mutation ◽  
Chorionic Villi ◽  
Heavy Proteinuria ◽  
The Status ◽  
Relevant Gene

INTRODUCTION. Congenital nephrotic syndrome is usually presented with heavy proteinuria, hypoproteinaemia, oedema and hyperlipidaemia in a child from its birth until the age of 3 months. Aetiology of the disease is mutation in the relevant gene or it develops secondary to various infections. The most common form of congenital nephrotic syndrome is caused by mutation in gene for nephrin, the most important protein of the slit diaphragm. CASE OUTLINE. We present the patient with the clinical and laboratory signs of nephrotic syndrome expressed in the first day of life. Despite the adequate and regular substitution, antiproteinuric and antithrombotic therapy, complications occurred and the patient deceased. Genetic analysis revealed homozygous mutation in gene for nephrin (614del8ins2TT). Three years later, in the patient?s mother who was in the 12th week of pregnancy at that time, biopsy of chorionic villi was performed and the foetal genetic material showed heterozygosity for the same recessive mutation which meant that the foetus had the status of a carrier. To the best of our knowledge, this is the first family in Serbia in which prenatal molecular - genetic testing for the congenital nephrotic syndrome was accomplished. CONCLUSION. We wish to stress the importance of molecular diagnosis in patients with congenital nephrotic syndrome in order to perform early prenatal diagnosis in future pregnancies.

scholarly journals Management of Nephrotic Syndrome: A Case Report from Lao PDR

2017 ◽  
Vol 44 (Suppl. 1) ◽  
pp. 31-34
Author(s):  
Phanekham Souvannamethy
Keyword(s):  
Nephrotic Syndrome ◽  
Kidney Biopsy ◽  
Lao Pdr ◽  
Deficiency Anemia ◽  
Laboratory Findings ◽  
Poor Diet ◽  
History Of ◽  
Laboratory Investigations ◽  
Pedal Edema

We report the case of a 23-year-old woman with a 2-week history of swelling around the eyes and both legs, and generalized body swelling. She had a history of chronic constipation and poor diet but no fever, recent illnesses, or hematuria. Examination revealed bilateral pedal edema and mild ascites. Laboratory investigations showed low hemoglobin 79 g/L, low mean corpuscular volume 53 fL, thrombocytosis 973 × 109/L, and marked hypochromia and microcytosis, with low iron and ferritin. She had hypoalbuminemia and reduced serum protein (albumin 1.9 g/dL, globulin 2.8 g/dL) with elevated triglycerides (454 mg/dL). Although kidney biopsy could not be performed due to a lack of facilities in the country, we made a diagnosis of idiopathic nephrotic syndrome (NS) with iron deficiency anemia secondary to poor diet based on clinical and laboratory findings. The patient was admitted and treated with intravenous methylprednisolone and iron supplements. Antiplatelet therapy was instituted with dipyridamole to prevent thromboembolism from the combination of nephrotic syndrome and thrombocytosis. She was later treated with albumin and furosemide due to elevated blood pressure and worsened edema. The edema resolved and her general condition improved. She was discharged to follow up and has remained stable, requiring no further treatment as of 18 months after admission. Kidney biopsy is important for diagnosis of NS. Diagnosis may be made from clinical and laboratory findings alone in some cases; however, biopsy is required to determine the type of NS and improve further management and treatment outcomes for patients.

scholarly journals IgE multiple myeloma: detection and follow-up

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Beatriz Nafría Jiménez ◽  
Raquel Oliveros Conejero
Keyword(s):  
Multiple Myeloma ◽  
Clinical Laboratory ◽  
Immunoglobulin E ◽  
Renal Involvement ◽  
Hematopoietic Stem ◽  
History Of ◽  
Protein Assays ◽  
Adequate Management ◽  
Monoclonal Component

Abstract Objectives We report a new case of immunoglobulin E multiple myeloma (IgE), a very rare isotype that accounts for <0.1% of cases of this monoclonal gammopathy. To ensure the adequate detection, quantification and identification of the monoclonal component, it is crucial that protein assays are performed. We provide some clues related to clinical laboratory results, which will facilitate an adequate management of the disease. Case presentation A 45-year-old patient with a five-week history of pain at the level of the elbow, who was diagnosed with IgE-Kappa multiple myeloma based on laboratory, radiological, and bone marrow findings. The patient received induction chemotherapy prior to hematopoietic stem-cell transplantation and is currently on follow-up. Conclusions Protein assays performed in the clinical laboratory, including protein electrophoresis and immunofixation, allowed for the detection of an IgE-Kappa monoclonal component prior to the appearance of the typical CRAB symptoms (hypercalcemia, renal involvement, anemia, and bone pain) of multiple myeloma (MM). The detection of IgE-Kappa facilitated early diagnosis and management.

scholarly journals Clinical Features of Idiopathic Nephrotic Syndrome and Factors Associated with its Relapse in Children: A Population-Based Study

2020 ◽  
Vol 11 (4) ◽  
Author(s):  
Abolhassan Seyezadeh ◽  
Mohamad Reza Tohidi ◽  
Somaye Sheikhi ◽  
Mohammad Saleh Seyedzadeh ◽  
Sara Hookari
Keyword(s):  
Nephrotic Syndrome ◽  
Recurrence Rate ◽  
Clinical Features ◽  
Idiopathic Nephrotic Syndrome ◽  
Population Based ◽  
Steroid Resistance ◽  
Filtration Barrier ◽  
The Mean ◽  
First Recurrence

Background: Idiopathic Nephrotic Syndrome (INS), which is caused by a defect in the glomerular filtration barrier, is the most common chronic glomerular disease in children. Objectives: The present study aimed to assess the clinical features of INS and some recurrence-related factors in children. Methods: This population-based, cross-sectional study was conducted on 302 children with INS referring to the Pediatric Nephrology Clinic of Imam Reza Hospital of Kermanshah city, Iran, during 1998-2018. Results: The mean age (SD) at the time of diagnosis and the follow-up duration were 4.87 (2.89) years and 49.83 (37.52) months, respectively. The numbers of boys and girls were 185 (61.9%) and 114 (38.1%), respectively. The mean number (SD) of recurrences, annual recurrence rate during the follow-up, and the time to the first recurrence after responding to treatment were 1.71 (1.91), 0.48 (0.77), and 10.15 (10.63) months, respectively. The most common type of INS was steroid-dependent/frequent relapse, with a frequency of 151 (50.5%). Furthermore, 33 (11.0%) and 266 (89.0%) patients were resistant and respondent to treatment, respectively. There was a statistically significant relationship between age at the time of diagnosis and the type of INS (P = 0.007). Conclusions: This study revealed a statistically significant association between higher age and steroid resistance. However, in steroid responders, there was no relationship between gender, age at the time of diagnosis, and the time to the first recurrence, and the recurrence rate.

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