Lupus-like membranous nephropathy. Is it lupus? Report of 5 cases in a reference hospital in Mexico

Introduction: Lupus nephritis requires antinuclear antibodies as classification criteria. There is a group of patients with nephrotic syndrome and conclusive histopathological findings for lupus nephritis, without classification criteria for systemic lupus erythematosus (SLE) or extrarenal manifestations. These groups of patients have been described as “lupus-like” nephritis or “renal-limited lupus nephritis”. Methods: Renal biopsy with histopathological evaluation with “full-house” immune-reactants in patients with negative antinuclear antibodies. Results: We report four cases with nephrotic syndrome and one with hematuria-proteinuria syndrome: two with impaired glomerular filtration rate and three with preserved renal function; urinary sediment with hematuria without dysmorphia and without extrarenal manifestations for autoimmune disease, negative antinuclear antibodies (ANA) and anti-double stranded DNA (anti-dsDNA); normal C3 and C4 complement levels. Renal biopsy in all cases was consistent for lupus nephritis class V. All patients received treatment as lupus nephritis protocol; only one case received induction with cyclophosphamide and methylprednisolone boluses, the rest received mycophenolic acid and prednisone as induction and maintenance. Two of the cases induced with mycophenolic acid relapsed, requiring cyclophosphamide for 6 months, achieving complete remission. All patients received renin-angiotensin-aldosterone system blockade and hydroxychloroquine. At follow-up, 4 cases still have negative antibodies and are without extrarenal manifestations for SLE classification criteria. The other case, during pregnancy several years after initial diagnosis, had preeclampsia with nephrotic proteinuria and a new determination of positive ANA and anti-dsDNA antibodies, complement levels below normal limits. Conclusion: The follow-up of patients with membranous glomerulopathy must be close; lupus like nephritis may be the first manifestation of the disease.

Atypical hemolytic uremic syndrome in high-risk neuroblastoma patient: case report

Atypical hemolytic uremic syndrome is a rare disorder uncontrolled complement activation, which is classically manifested by anemia, thrombocytopenia and renal failure. Extrarenal manifestations are observed in 20 % of patients, most of which are associated with damage of the central nervous system. Eculizumab is effective treatment option. The article describes a case report of the severe atypical hemolytic uremic syndrome in a 20 m. o. patient who received immunotherapy with anti-GD2 antibodies (dinutuximab beta) for a high-risk neuroblastoma.

Penyakit Ginjal Polikistik disertai Anemia Hemolitik Autoimun

The hereditary forms of polycystic kidney disease of autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD) are the main forms. ADPKD is a multifactorial disorder characterized by bilateral renal cysts and commonly affects adult patients. The most common extrarenal manifestations of ADPKD are liver cysts and is often incidental findings and clinically insignificant. A case report has been reported with polycystic disease in the kidneys and liver with autoimmune hemolytic anemia. ADPKD is a progressive disease and symptoms tend to get worse over time. ADPKD involves managing the symptoms and slowing disease progression. The most serious complication of ADPKD is end stage kidney failure. This aim of this study were to determine the symptoms and laboratory tests that confirm the diagnosis of polycystic kidney disease accompanied by autoimmune hemolytic anemia.

Autoimmunity in Acute Poststreptococcal GN: A Neglected Aspect of the Disease

Acute poststreptococcal GN (APSGN) is the prototype of immune complex GN and is associated with manifestations of autoimmune reactivity that have been neglected as epiphenomena. Recently, studies have demonstrated transient antifactor B autoantibodies that activate the alternative complement pathway, bringing self-immunity to a central position in the pathogenesis of APSGN. Therefore, examining other manifestations of autoimmunity that have been reported in association with poststreptococcal GN is of interest. This article reviews the renal and extrarenal manifestations of autoimmune reactivity in APSGN and considers their potential relevance in modifying the usually benign clinical course of the disease. It also discusses related aspects of the nephritogenic antigens, complement activation, and genetic elements associated with immune reactivity and their potential relevance to the familial incidence of the disease.

Idiopathic granulomatous interstitial nephritis and isolated renal sarcoidosis: Two diagnoses of exclusion

Granulomatous interstitial nephritis is a rare finding in renal biopsy caused by drugs, infections, and inflammatory or autoimmune diseases. Idiopathic cases account for 18% of granulomatous interstitial nephritis in native kidneys. Sarcoidosis and drugs are the most common causes of granulomatous interstitial nephritis in Western countries, while in India tuberculosis prevails. Few cases of renal sarcoidosis without extrarenal involvement, that is, isolated renal sarcoidosis, have been reported. The diagnostic criteria of isolated renal sarcoidosis remain, however, unclear. Extrarenal sarcoidosis and other etiologies of granulomatous interstitial nephritis, in particular drug-related, have to be excluded. Some of these patients may develop extrarenal manifestations during follow-up. Changes in calcium and vitamin D metabolism are frequently observed in renal sarcoidosis and support its diagnosis. While non-necrotizing granulomas are a feature of sarcoidosis and drug-induced granulomatous interstitial nephritis, they also prevail in tuberculosis-associated granulomatous interstitial nephritis. Granulomatous interstitial nephritis caused by sarcoidosis and drugs usually responds to steroid therapy. A poor response to steroids may indicate an infectious etiology such as tuberculosis and should lead to a review of the initial diagnosis. This article gives an overview of the various etiologies of granulomatous interstitial nephritis, their frequency and histopathological characteristics, as well as potential biomarkers associated with renal sarcoidosis.

Genetic analysis diagnosed Bardet–Biedl syndrome in a patient with a clinical diagnosis of Senior–Løken syndrome

Background Senior–Løken syndrome (SLS) and Bardet–Biedl syndrome (BBS) are ciliopathies. SLS is characterized by retinitis pigmentosa (RP) and familial nephronophthisis, leading to end-stage kidney disease, while BBS is characterized by six major symptoms: RP, polydactyly, obesity, genital abnormalities, learning difficulties, and renal defects. Ciliopathies have been diagnosed on a phenotypic basis, but diagnosis can now be established by genetic testing, using techniques such as next-generation sequencing. Here, we report a patient clinically diagnosed with SLS but diagnosed with BBS 13 years later using next-generation sequencing. Case presentation The patient was diagnosed with RP at the age of 6 years. She had some difficulty in social interactions and pre-obesity, but no polydactyly. At the age of 8 years, she was diagnosed with chronic kidney disease, anemia, and liver dysfunction. Kidney and liver biopsy revealed renal tubule cysts, tubule membrane disruption, and liver fibrosis. Therefore, SLS was diagnosed but no NPHP1 mutations were detected. Peritoneal dialysis was started at the age of 9 years, and she underwent kidney transplantation with a graft from her father at the age of 13 years. At the age of 21 years, she again underwent genetic testing for most of the mutations associated with ciliopathy. This revealed a homozygous frameshift mutation in intron 11 of SDCCAG8. Conclusions Mutations in SDCCAG8 are known to be causative of SLS and BBS without polydactyly. The fact that the patient had RP, some difficulty in social interactions, pre-obesity, juvenile nephronophthisis, liver fibrosis, bronchial asthma, and otitis media suggested BBS. However, some of these are not specific symptoms for BBS and she had few typical symptoms of BBS. Therefore, a definitive diagnosis of BBS was difficult without genetic analysis. Because many more patients with SDCCAG8 mutations have extrarenal manifestations like the current patient than standard nephronophthisis patients, careful monitoring of extrarenal manifestations is needed to improve patient management.

Clinical and genetic features of glomerulocystic kidney in childhood

The review provides historical information on the study of renal cystosis that occurs with glomerular cysts, discusses terminology issues and classification of diseases that occur with glomerulocystic kidney. The course features, diagnostic methods, treatment, and prognosis of renal glomerulocystosis in children, renal and extrarenal manifestations of two subtypes of hereditary glomerulocystic kidney disease: autosomal dominant glomerulocystic kidney disease associated with mutations of uromodulin (OMIM 609886) and familial hypoplastic glomerulocystic kidney disease associated with mutations of the HNF-1β (TCF2) gene (OMIM 137920). Diagnostic tetrad of familial hypoplastic glomerulocystic kidney disease, features of course and prognosis of HNF-1β-associated kidney disease with very early onset (VEO), MODY5 diabetes caused by HNF-1β mutation and 17q12 microdeletion syndrome in children were detected. According to the results of ultrasound examination (US), the fetus and newborn reveal hyperechogenicity of the kidney parenchyma, the volume of which is increased or corresponds to normal values. Renal cysts in glomerulocystic kidney are small, located in the cortical layer or subcapsularly, single or multiple, rarely diagnosed in the neonatal period. In young children, US shows a picture of increasing hyperechogenicity of the parenchyma with visualization of renal cysts in the cortical layer or subcapsularly, a decrease in the volume or asymmetry in the size of the kidneys. Urinary syndrome in glomerulocystic kidney in childhood is characterized by hematuria, microproteinuria, magniuria and uraturia in combination with hypostenuria and polyuria. Molecular genetic research reveals the mutation of genes responsible for the development of inherited diseases that occur with glomerulocystic kidney, and largely determines the prognosis and management tactics of the patient. A systematic approach is needed in the diagnosis and treatment of glomerulocystic kidney in children in order to slow the progression of chronic kidney disease and extrarenal manifestations, and to maintain continuity of observation of patients in pediatric and adult nephrological structures.

Renal involvement at diagnosis of pediatric acute lymphoblastic leukemia

Acute leukemia is the most common type of cancer in pediatric patients. This type of cancer accounts for a third of all childhood cancer cases. More than half of pediatric acute leukemia patients show signs and symptoms such as hepatomegaly, splenomegaly, pallor, fever and bruising at the time of diagnosis. In early stages of acute lymphoblastic leukemia (ALL), nephromegaly and other renal manifestations such as high blood pressure (HBP) and renal failure are uncommon, although renal infiltration and nephromegaly are common in advanced-stage pediatric patients. This is a retrospective case review with a critical appraisal of the existing evidence from the literature. We present a clinical case of a child with HBP associated with bilateral nephromegaly which resolved after chemotherapy treatment. This patient presented with HBP that required pharmacological treatment, likely owing to nephromegaly. All HBP secondary causes were rejected. Nephromegaly was resolved after chemotherapy treatment, and antihypertensive medication was discontinued. Nephromegaly and HBP are rare manifestations of ALL debut in pediatrics. The present case report illustrates this unusual combination and Suggests clinicians to consider malignancy as its causal factor, especially if the symptoms are accompanied by other suggestive extrarenal manifestations.

Renal involvement in genetic disease

There are more than 200 inherited disorders in which the kidney is affected and which display a wide range of renal features. Autosomal dominant polycystic kidney disease— affects about 1/1000 individuals and accounts for 7% of cases of endstage renal failure in Western countries. Inheritance is autosomal dominant, with mutations in polycystin 1 responsible for 75% of cases and mutations in polycystin 2 accounting for most of the remainder. May present with renal pain, haematuria, urinary tract infection, or hypertension, or be discovered incidentally on physical examination or abdominal imaging, or by family screening, or after routine measurement of renal function. Commonly progresses to endstage renal failure between 40 and 80 years of age. Main extrarenal manifestations are intracranial aneurysms, liver cysts, and mitral valve prolapse. Alport’s syndrome—X-linked dominant inheritance in 85% of kindreds, with molecular defects involving the gene encoding the α‎-5 chain of the type IV collagen molecule. Males typically present with visible haematuria in childhood, followed by permanent nonvisible haematuria, and later by proteinuria and renal failure. Extrarenal manifestations include perceptive deafness of variable severity and ocular abnormalities. Carrier women often have slight or intermittent urinary abnormalities, but may develop mild impairment of renal function late in life, and a few develop endstage renal disease. In the autosomal recessive form of Alport’s syndrome, renal disease progresses to endstage before 20 to 30 years of age at a similar rate in both affected men and women. Other disorders covered in this chapter include hereditary tubulointerstitial nephritis, hereditary tumours, glomerular structural diseases, metabolic diseases with glomerular involvement (Fabry’s disease), congenital anomalies of the kidney and urinary tract, and other genetic diseases with kidney involvement.