Glomerulocystic kidney in two red piranhas Pygocentrus nattereri.

Glomerulocystic kidney (GCK) is defined by a dilatation of the Bowman's space (greater than 2 times the normal size) of more than 5% of all glomeruli. Although GCK has been occasionally documented in dogs, cats, and humans with renal failure, in fish, reports of spontaneous GCK are rare. For the present study, 2 captive adult red piranhas Pygocentrus nattereri from a closed population were submitted for post-mortem examination. Clinical history included lethargy, inappetence, dyspnea, and altered buoyancy. Macroscopically, the fish displayed coelomic distension and ascites. The kidneys were markedly enlarged and dark yellow. Histologically, Bowman's space was noticeably dilated, occasionally with atrophic glomerular tufts. Degeneration and necrosis of the tubular epithelium, infiltration, and nephrocalcinosis were also present. To the authors' knowledge, this present study is the first report of spontaneously occurring GCK in red piranhas and freshwater fish in general. Despite being rare, GCK is a condition with the potential to impair the health of fish and mammals, and further studies are needed to shed new light on this condition.

A case report of thin basement membrane nephropathy accompanied by sporadic glomerulocystic kidney disease.

BACKGROUND: Thin basement membrane nephropathy (TBMN) is a relatively common disease. Patients typically present with isolated hematuria, which has a good renal prognosis. In contrast, glomerulocystic kidney disease (GCKD) is a rare disease, associated with slow progressive renal dysfunction. To our knowledge, co-occurring diagnosis of TBMN with GCKD has not been reported previously. CASE PRESENTATION: A 30-year old woman was admitted to our hospital for evaluation of hematuria and renal insufficiency. Upon examination, her urinary protein level was 40 mg/day and occult blood in her urine was 2+. The patient's urinary dysmorphic red blood cell sediment was 30-49/high power field. In contrast, her serum creatinine levels increased from 0.57 mg/dl to 0.86 mg/dl during the previous 2-years, without special events. She suffered from far-sightedness and astigmatism beginning at birth; She had no family history of renal disease. Renal biopsy demonstrated cystic dilatation of the Bowman's capsule and atrophy of the glomerular tuft. The glomerular basement membrane (GBM) was thin, with an average thickness of 191 nm. Next-generation sequencing was used to evaluate for mutations in COL4A3 and COL4A4, associated with TBMN, and UMOD, MUC1, and SEC61A1, associated with hereditary GCKD. No pathogenic mutations were identified. We thus diagnosed the patient with TBMN coexistent with sporadic GCKD. CONCLUSION: We report the patient diagnosed with TBMN accompanied by sporadic GCKD, based on renal biopsy and genetic testing. Because it is possible that other diseases, such as GCKD, can coexist with TBMN, it is important to consider renal biopsy.

Neonatal stroke and haematuria: Answers.

BACKGROUND: This is a report of an infant born near term with neonatal stroke and haematuria. The renal phenotype, pathogenic genotype and pathological findings on renal biopsy are discussed. CASE-DIAGNOSIS: Prenatal magnetic resonance imaging revealed anomalies which persisted postnatally. Haematuria was detected during follow-up. The posttnatal renal ultrasound scan was normal, and there was no associated proteinuria. A likely pathogenic genetic mutation was detected. CONCLUSIONS: This case highlights a relatively newly discovered cause of hereditary nephropathy in which the basement membrane is affected, with initial effects on the glomerular membranes and subsequent effects on the renal tubular basement membranes.

Maturity-onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing.

Exome sequencing is being increasingly used to identify disease-associated gene mutations. We used whole exome sequencing to determine the genetic basis of a syndrome of diabetes and renal disease affecting a mother and her son. We identified a mutation in the hepatocyte nuclear factor 1-b (HNF1B) gene that encoded a methionine to valine amino acid change (M160V) in the HNF1B protein. This leads us to the previously unappreciated diagnosis of maturity-onset diabetes of the young type 5 and provided a basis for genetic counselling of other family members.

Sporadic Form of Glomerulocystic Kidney Disease in a Child: A Case Report.

Glomerulocystic kidney disease (GCKD) is a rare form of cystic renal disease. We report a four-week-old baby girl born to non-consanguineous parents; their antenatal third-trimester ultrasound showed severe oligohydramnios that required amnioinfusion. Post-natal ultrasound examination showed few tiny cysts (2-3mm) involving the cortices in bilateral kidneys. Kidney biopsy showed dilatation of Bowman's space and cystically dilated glomeruli, suggestive of GCKD. Whole exome sequencing revealed no pathogenic or likely pathogenic variant.

Unusual association of Wilms' tumor with cystic diseases of kidney: A pathologic surprise.

Wilms' tumor (or nephroblastoma) is the most common renal malignancy in the pediatric population which consists of blastemal, epithelial, and stromal elements in variable proportions. The occurrence of renal cysts in children and infants is a rare phenomenon and is possibly an outcome of developmental aberrations in mesonephric blastema. The coincidental association of nephroblastoma with renal cysts is a very rare finding. Here, we describe two cases of Wilms' tumor with an unusual association between glomerulocystic kidney disease and multicystic dysplastic kidney.

Glomerulocystic disease, a rare cause of renal cysts in infants: A series of three cases.

Glomerulocystic kidney disease (GCKD) is an uncommon type of cystic renal disease affecting children. It has both sporadic and familial occurrence and is characterized by cortical microcysts associated with dilatation of Bowman's spaces. In some instances, GCKD is an early manifestation of autosomal dominant polycystic kidney disease. Here, we present three cases of GCKD, two in infants and one in a perinatal postmortem. The first one is a case of GCKD with unilateral involvement, diagnosed on surgical biopsy. GCKD is a morphological expression of several hereditary and nonhereditary disorders that differ vastly in their management and long-term outcome. Hence, accurate morphological diagnosis of this entity is important for prognostication and genetic counseling.

Unraveling the Mechanistic Complexity of the Glomerulocystic Phenotype in Dicer Conditional KO Mice by 2D Gel Electrophoresis Coupled Mass Spectrometry.

PURPOSE: Dicer, an RNase III type endonuclease, is a key enzyme involved in miRNA biogenesis. It has been shown that this enzyme is essential for several aspects of postnatal kidney functions and homeostasis. In this study, we have examined conditional knockout (cKO) mice for Dicer in Pax8 (Paired-box gene 8) expressing cells to investigate the kidney protein profile. This specific model develops a glomerulocystic phenotype coupled with urinary concentration impairment, proteinuria, and severe renal failure. EXPERIMENTAL DESIGN: Proteomic analysis was performed on kidney tissue extracts from cKO and control (Ctr) mice by 2D Gel Electrophoresis coupled with mass spectrometry. RESULTS: The analysis highlighted 120 protein spots differentially expressed in Dicer cKO tissue compared with control; some of these proteins were validated by Western blotting. Ingenuity Pathway Analysis led to the identification of some interesting networks; among them, the one having ERK as a central hub may explain, through the modulation of the expression of a number of identified protein targets, the metabolic and structural alterations occurring during kidney cyst development in Dicer cKO mouse model. CONCLUSIONS AND CLINICAL RELEVANCE: Our results contribute to gain new insights into molecular mechanisms through which Dicer endonuclease controls kidney development and physiological functions.

Glomerulocystic kidney presenting as a unilateral kidney mass in a newborn with tuberous sclerosis: Report of a case and review of the literature.

Glomerular cysts are defined as a 2-3 times dilation of Bowman spaces and their presence in at least 5% of the glomeruli defines the kidneys as glomerulocystic (GCK). The association between cystic kidney disease and the tuberous sclerosis complex (TSC) is well known, but its presentation as a unilateral mass with glomerulocystic pattern is rare. We describe a case of an infant with a prenatal diagnosis of TSC, with a renal mass that was believed to be a renal tumor. A four-month-old infant with maternal history of TSC and prenatally diagnosed subependymal nodules and a right renal mass underwent nephrectomy. Histopathology revealed a segmental GCK with epithelial hyperplasia of the tubules and cysts. A diagnosis of TSC associated GCK was rendered. Eight other cases with similar histopathological findings were found in the literature, two of which presented as a localized mass. Usually there is no family history but the pathologic findings are similar. Awareness of the entity and its presentation as a localized mass may aid in the differential diagnosis of renal masses in infants. The pre-operative diagnosis of GCK is difficult and relies on a high degree of clinical awareness and imaging skills. Its presence should prompt the search for its etiology, particularly the exclusion of a heritable cause. The hyperplastic tubular epithelium within the glomerular cysts found in ours and other reported cases seems so characteristic that may serve as a major clue for the diagnosis of TSC.

Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease.

A 35-year-old woman was admitted to our hospital for evaluation of end-stage renal failure. Diagnostic imaging, including ultrasonography and magnetic resonance imaging, showed polycystic kidneys and peribiliary hepatic cysts, but the renal cysts were isointense and her kidneys were smaller than the end-stage kidneys of patients with autosomal dominant polycystic kidney disease. Glomerulocystic kidney disease was diagnosed by renal biopsy. Clinical examination revealed findings such as a missing maxillary canine, lingual anomalies, and brachydactyly. Genetic testing gave a diagnosis of orofaciodigital syndrome type 1 with a 5 nucleotide deletion indicating a frameshift mutation in exon 9. The patient's mother had the same mutation and similar clinical findings. This case is useful for understanding kidney and liver involvement in orofaciodigital syndrome type 1.

First adult case of sporadic localized glomerulocystic kidney mimicking a tumor.

Glomerulocystic kidneys (GCKs) are mainly observed in infants and young children, and are characterized by the cystic dilatation of Bowman's space to form glomerular cysts (GCs). GCKs are associated with various conditions. Additionally, the cystogenesis of GCKs remains controversial. The present study describes a rare adult case of a sporadic localized GCK that radiologically mimicked a multilocular cystic tumor, and analyses the features of GC. A 42-year-old male with hematuria underwent a right partial nephrectomy for a cystic mass. The majority of the cyst was distributed in the cortex and contained a single collapsed glomerulus. Using serial sections, narrow and serpiginous proximal tubules that continued to the GCs were detected. These findings suggested that obliteration at the glomerulotubular junction was not the primary cause of GC in this case. To the best of our knowledge, this is the first adult case of a sporadic localized GCK mimicking a tumor. Unnecessary surgical procedures may be avoided by careful evaluation of computed tomography scans and magnetic resonance imaging, although localized GCKs are quite rare.

Cystic kidney disease: a primer.

Renal cystic diseases encompass a broad group of disorders with variable phenotypic expression. Cystic disorders can present during infancy, childhood, or adulthood. Often, but not always, they can be distinguished by the clinical features including age at presentation, renal imaging characteristics, including cyst distribution, and the presence/distribution of extrarenal manifestations. It is important to take the clinical context into consideration when assessing renal cystic disease in children and adults. For example, solitary kidney cysts may be completely benign when they develop during adulthood but may represent early polycystic kidney disease when observed during childhood. In this review, we have categorized renal cystic disease according to inherited single-gene disorders, for example, autosomal recessive polycystic kidney disease; syndromic disorders associated with kidney cysts, for example, tuberous sclerosis complex; and nongenetic forms of renal cystic disease, for example, simple kidney cysts. We present an overview of the clinical characteristics, genetics (when appropriate), and molecular pathogenesis and the diagnostic evaluation and management of each renal cystic disease. We also provide an algorithm that distinguishes kidney cysts based on their clinical features and may serve as a helpful diagnostic tool for practitioners. A review of Autosomal Dominant Polycystic Disease was excluded as this disorder was reviewed in this journal in March 2010, volume 17, issue 2.

Glomerulocystic Kidney Disease and Hepatoblastoma in an Infant: A Rare Presentation.

Glomerulocystic kidney disease (GCKD) is a rare condition comprising heritable and non-heritable types [Oh et al.: Nephron 1986;43:299-302]. Hepatoblastoma is a sporadically occurring tumor of embryonal origin that is associated with overgrowth syndrome and renal cysts. A concurrent presentation of GCKD with hepatoblastoma was first described in 1989 [Rao et al.: Jpn J Surg 1989;19:583-585]. We report the simultaneous presentation of hepatoblastoma and GCKD in a 5-month-old child and explore the probability of insulin-like growth factors, insulin-like growth factor-binding protein and Beckwith-Wiedemann gene mutation as a putative cause.

Glomerulocystic disease.

Glomerulocystic disease is a rare cause of cystic kidney diseases and can occur at any age. It is characterized by cystic dilatation of the Bowman's capsule and normal tubules, and needs to be differentiated from other cystic renal diseases. It commonly presents as renal failure. We present a case of a 52-year-old female, with renal failure who was subsequently found to have glomerulocystic disease on renal biopsy.

Enfermedad glomeruloquística en dos perros con insuficiencia renal / Glomerulocystic kidney disease in two dogs with renal failure

Two cases of glomerulocystic kidney disease (GCKD) are described in dogs with renal failure. The laboratory test of the two dogs showed renal hyperazotemia with secondary non-regenerative anemia, associated to chronic renal failure. Macroscopic kidney lesions in both dogs were similar: showing multiple small cysts with an average of 1 mm in diameter, mainly in the renal cortex. Histopathological examination of the kidneys in both dogs revealed dilatation in the filtration space and Bowman's capsule forming cysts with glomerular atrophy and mild to severe periglomerular and interstitial fibrosis. These findings suggest that cystic glomerular changes may be developed as a consequence of fibrosis, which could act by compressing the glomerulo-tubular junctions. There are few reported cases of GCKD in dogs prior to these two. It may be explained that this is only a sporadic entity, adding that it may well be mistaken with other similar renal cystic pathologies, linked or not to a renal failure; therefore, it should be included in the differential diagnoses. For the first time, this report gives a clinical-pathological description of two cases in dogs with GCKD in Mexico.

Se describen dos casos de enfermedad glomeruloquística renal (EGQR) en perros con insuficiencia renal. En los análisis de laboratorio de ambos animales se encontró hiperazotemia renal con anemia no regenerativa secundaria, asociada con insuficiencia renal crónica. Las lesiones macroscópicas en los riñones de dichos perros fueron similares: se observaron múltiples pequeños quistes de 1 mm de diámetro en promedio, localizados principalmente en la corteza renal. En el examen histopatológico de los riñones de ambos perros se observaron dilataciones del espacio de filtración y de la cápsula de Bowman formando quistes, con atrofia de los ovillos glomerulares, así como fibrosis periglomerular e intersticial de moderada a severa. Estos hallazgos sugieren que los cambios glomerulares quísticos se pueden desarrollar como consecuencia de la fibrosis, la cual pudiera ejercer efecto compresor de las uniones glomérulo-tubulares. En el ámbito mundial, en perros caseros existen muy pocos informes previos de EGQR, debido quizá a que realmente es una entidad esporádica, además de que pudiera confundirse con otras patologías renales quísticas parecidas, asociadas o no con insuficiencia renal, por ello debe incluirse dentro de los diagnósticos diferenciales. Este informe aporta la descripción clínico-patológica de dos casos de EGQR en perros, por primera vez en México.