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Hypertension in a child with type IA glycogen storage disease.

Hypertension and proteinuria were observed in a 2-year-old child with type IA (von Gierke's) glycogen storage disease (GSD). She had evidence of hyperfiltration and had elevated selective renal vein renins. On renal biopsy, increased mesangial cell matrix and cellularity were observed with focal thickening and irregularity of the basement membrane. This case may be representative of the early renal findings in type IA GSD.

Treatment of a patient with chronic bronchial asthma with many bronchoscopies and lavages using acetylcysteine: a case report.

This Case Report is that of a young woman followed for 21 years, whose life was saved repeatedly by bronchoscopy and lavage to remove mucous plugs and casts from the tracheobronchial tree. In 1982, after again having a respiratory crisis and not having a bronchoscopy and lavage, she died. The pathology revealed a thickened hyalinized basement membrane and numerous mucous plugs filling the larger bronchi and bronchioles.

Localized cicatricial pemphigoid (Brunsting-Perry). A transplantation experiment.

Normal skin was transplanted into a cicatricial plaque in a patient affected with localized, benign pemphigoid of the Brunsting-Perry type. Eight weeks later, the transplanted tissue was removed and found to have IgG at the basement membrane zone on immunofluorescence microscopy. Subepidermal bullae developed at the graft-donor site. Local factors and trauma may be important in the pathogenesis of this variant of cicatricial pemphigoid.

Multiple myeloma presenting as dense deposit disease. Light chain nephropathy.

A 45-year-old male was admitted to the hospital because of polyuria and polydipsia. After admission, proteinuria and hematuria were found. The kidney function deteriorated and necessitated the initiation of chronic hemodialysis. Examination of the bone marrow revealed multiple myeloma and kappa light chains were found in the urine. The kidney biopsy showed membranoproliferative glomerulonephritis with dense deposits in the glomerular basement membrane.

Collagenous colitis: an unrecognised entity.

A patient is reported with chronic abdominal pain, diarrhoea, and associated radiological and endoscopic abnormalities of the sigmoid colon. Light and electron microscopic study of colorectal mucosa showed abnormal collagenous thickening of the subepithelial basement membrane. The authors felt that the clinical and morphological features justified a diagnosis of collagenous colitis. Review of the literature suggested that collagenous colitis was still an unrecognised entity.

Гемолитический уремический синдром после ветряной оспы.

Описан пациент с гемолитическим уретимическим синдромом, осложняющим ветряную оспу. Во время постмортема гломерулия продемонстрировала уплотнение диффузной капиллярной стенки и обширное морщинирование подвальной мембраны с субэндетелиальным осаждением гранулярного материала. Хотя в его этиологии замешан ряд вирусов и других инфекционных агентов, это, как представляется, первый доклад об ассоциации между гемолитическим синдромом мочевины и ветряной оспой.

Совпадение в аннотации оригинала
A patient with hemolytic uremic syndrome complicating chicken pox is described. At post mortem, the glomeruli showed diffuse capillary wall thickening and extensive wrinkling of the basement membrane with subendothelial deposition of granular material. Although a number of viruses and other infective agents have been implicated in its etiology, this appears …

Epidermolysis bullosa acquisita and Crohn's disease.

A patient with epidermolysis bullosa acquisita (EBA) associated with Crohn's disease is presented. The clinical, histological and immunological findings were in keeping with previous reports. However, clinically normal skin and mucosa exhibited deposits of IgG and C3 in the basement-membrane zone. These deposits remained unchanged during the treatment period. It is therefore suggested that immunological mechanisms are implicated in pathogenesis of the disease.

Obinutuzumab in membranous nephropathy: a potential game-changer in treatment.

Membranous nephropathy (MN) is a kidney disease characterized by thickening of the glomerular basement membrane due to immune complex deposition, often leading to nephrotic syndrome and potentially progressing to end-stage renal disease. Traditional treatments, including corticosteroids and immunosuppressive agents, have significant side-effects and variable efficacy. Recently, obinutuzumab, a fully humanized monoclonal antibody targeting CD20, has emerged as a promising therapeutic option for MN. Herein, we review the pathophysiology of MN, the mechanism of action of obinutuzumab, clinical da…

A disease resembling junctional epidermolysis bullosa in a toy poodle.

A disease resembling junctional epidermolysis bullosa in humans is described in a toy poodle. Shortly after birth, the affected animal devel … nimally inflamed subepidermal vesicular disease with separation occurring at the zona lucida of the basement membrane zone. Laminin and type IV collagen were present at the base of the vesicle.

Overexpression of ameloblastin in secretory ameloblasts results in demarcated, hypomineralized opacities in enamel.

Introduction: Developmental defects of the enamel manifest before tooth eruption and include amelogenesis imperfecta, a rare disease of unde … with the opaque enamel were 17-kDa Ambn cleavage products, a prolonged secretory stage, and a thin basement membrane in the maturation stage. Ambn accumulations found in the innermost enamel close to the DEJ and the mineralization front correlated with reduced mineral content. Demarcated enamel lesions were associated with Ambn species of 17 kDa and higher, prolon …

[Detection of large deletions in X linked Alport syndrome using competitive multiplex fluorescence polymerase chain reaction].

OBJECTIVE: To evaluate the ability of multiplex competitive fluorescence polymerase chain reaction in detection of large deletion and duplication genotypes of X-linked Alport syndrome. METHODS: Clinical diagnosis of X-linked Alport syndrome was based on either abnormal staining of type IV collagen α5 chain in the epidermal basement membrane alone or with abnormal staining of type IV collagen α5 chain in the glomerular basement membrane and Bowman's capsule/ultrastructural changes in the glomerular basement membrane typical of Alport syndrome. A total of 20 unrelated Chinese patients (13 males…

Complement system promotes transfer of immune complex across glomerular filtration barrier.

BACKGROUND: The solubilizing effect of complement (C) on immune complexes (IC) in the fluid phase is well known, however effects on tissue-deposited IC have not been analyzed in detail. We studied the influence of C depletion on the movement of IC across the glomerular basement membrane in a rat model of passive in situ IC nephritis. EXPERIMENTAL DESIGN: The left kidneys of intact rats, rats given cobra venom factor (C-depleted) or rats given anti-polymorphonuclear granulocyte antiserum (PMN-depleted) were perfused with cationized ferritin (electron-dense tracer antigen), followed by intraven…

The role of antibody class and target on subepidermal blistering disease phenotype and management.

Subepidermal blistering diseases are driven by autoantibodies targeted to the basement membrane zone. These autoantibodies can stem from multiple antibody classes (e.g., IgE, IgG, IgM, IgA) and differing antibody classes and antibody targets can impact disease phenotype and potentially management. Despite significant advances, there remains a paucity of data and funding for further elucidating subepidermal blistering disease pathophysiology and the impact this has on management. This review highlights current understanding of subepidermal blistering disease antibody targets, classes, and the i…

Review of autoimmune blistering diseases: the Pemphigoid diseases.

Autoimmune Blistering Diseases of the Pemphigoid type is characterised by sub-epidermal blisters (SEB) with circulating autoantibodies against components of the basement membrane zone (BMZ). The main disorders to date include bullous pemphigoid (BP), pemphigoid gestationis, mucous membrane pemphigoid (MMP), epidermolysis bullosa acquisita (EBA), linear IgA disease (LABD), dermatitis herpetiformis (DH), lichen planus pemphigoides and bullous lupus. This is in contrast to pemphigus and related disorders, which demonstrate intraepidermal acantholysis and a positive Nikolsky sign. The classificati…

Scheie's syndrome. An ultrastructural analysis of the cornea.

The histopathology of a corneal graft specimen obtained from a patient with Scheie's syndrome (systemic mucopolysaccharidosis, type IS) is described with particular emphasis on the ultrastructural findings. Numerous vacuoles containing fibrillogranular material were found in the corneal epithelial cells, the keratocytes, and the endothelial cells. The basement membrane of the epithelium contained frequent breaks and peg-like undulations, and Bowman's layer was markedly attenuated. Fibrous long-spacing (FLS) collagen featured prominently in the stroma. Descemet's membrane was normal. The findin…

Corneal and conjunctival changes in congenital erythropoietic porphyria.

Penetrating keratoplasty and conjunctival resection were performed on a 53-year-old woman with confirmed congenital erythropoietic porphyria. Corneal and conjunctival tissue samples, studied by light and electron microscopy, revealed inflammatory cells and a reduced keratocyte population. Vessels within the conjunctival and corneal stroma displayed a thickened basement membrane. Microfibrillar material was seen in the extracellular spaces of the conjunctival stroma. These changes are similar to those reported for ultraviolet light-exposed skin of porphyria patients. The Descemet's membrane lac…

Two Novel Mutations in LAMC2 Gene in Iranian Families Affected by Junctional Epidermolysis Bullosa.

BACKGROUND: Junctional epidermolysis bullosa (JEB) is an autosomal recessive skin disorder with defective adhesion of dermal- epidermal within the lamina lucida region of the basement membrane zone. The main characterization of JEB is blistering and fragile skin and mucous membrane. Laminins are noncollagenous part of basement membrane and classified as a family of extracellular matrix glycoprotein. Laminins contain three chains: Laminin α, Laminin β and Laminin γ. LAMC2 (laminin subunit gamma 2) gene encodes γ subunit of laminin and its mutation contributes to JEB. Here, we report a disease-c…

The Yin and Yang of Integrin Function in Re-Epithelialization During Wound Healing.

BACKGROUND: Integrins are transmembrane proteins that are present in the plasma membrane of basal ketatinocytes and connect them to the underlying basement membrane and to the dermis. There are primarily two types of interactions between the epidermis and the dermis-via focal adhesion plaques and hemidesmosomes. It is critical that these interactions form properly to confer the skin strong mechanical properties. Integrins are also critical during wound healing, particularly in closure of the wound. THE PROBLEM: Margadant et al. (2009) address proper closure of cutaneous wounds. They developed…

Airway Histopathology of Adolescent Survivors of Bronchopulmonary Dysplasia.

Long-term survivors of bronchopulmonary dysplasia develop chronic obstructive lung disease. Herein we report in vivo histopathology from bronchial biopsies of 3 adolescent survivors of severe bronchopulmonary dysplasia. Thickened basement membranes with lymphocytic infiltrates and signs of immature neoangiogenesis in the absence of T-helper lymphocytes or eosinophils suggest the presence of an ongoing active airway process.

Eye involvement in junctional epidermolysis bullosa.

The ocular findings in a group of five patients with the nonlethal form of junctional epidermolysis bullosa are presented. A history of recurrent corneal erosion and the presence of corneal scarring were the most common findings. We discuss the possible mechanisms of the ocular changes and describe how the recent application of monoclonal antibody probes to components of the basement membrane are helping to elucidate the basic defect in this condition.