A case of late-onset oligomeganephronia

2012

In 1962, Habib et al. described renal pathology findings of a particular form of renal hypoplasia, which was eventually called (congenital) oligomeganephronia (OMN).1 Oligomeganephronia is a type of renal hypoplasia characterized by a severe developmental defect in both kidneys and the following histopathologic features: low number of nephrons, hypertrophic glomeruli and hypertrophic tubules.1About 30% of the children affected by this unusual pediatric illness are either premature newborns or small to their gestational age, with a clear male preponderance (male: female ratio ~3:1).1 All affected children develop progressive renal failure leading to end-stage renal disease within months after birth or until early-mild adolescence. Um caso de oligomeganefronia de início tardio

Clinics and Practice, 2013

We report a case of congenital oligomeganephronia unexpectedly imaged with computed tomography (CT). Oligomeganephronia is a form of renal hypoplasia that leads to renal failure in childhood or adolescence. If encountered, its CT features should suggest the diagnosis and prompt renal biopsy.

IOSR Journals , 2019

Oligomeganephronia is a rare renal anomaly that leads to renal insufficiency in childhood or adolescence. It is morphologically characterized by a decreased number of nephrons with a compensatory hypertrophy of the remanining glomeruli and tubules. The disease belongs to the spectrum of kidney hypoplasias. Oligomeganephronia possesses a rather specific post-contrast computed-tomographic appearance, which paradoxically could present somewhat of a dignostic challenge due to the rarity and lack of sufficient awareness of the condition. We present a review of the contemporaryliterature available about this disease, illustrated with a case from our own practice of a 14-year-old patient with oligomeganephronia.

Pediatric Nephrology, 2000

Two newborns with glomerulocystic kidney disease manifesting as late onset oligohydramnion and neonatal anuria, yet without severe respiratory distress, are presented. They had a similar perinatal course and associated clinical manifestations. No associated congenital or inherited malformation syndrome could be defined. Both infants' parents were first degree cousins and belonged to the same small Bedouin tribe, and neither they nor the infants' siblings had polycystic kidneys or renal insufficiency, pointing to either a possible genetic etiology or a common external toxic exposure.

Pediatric Nephrology, 2005

Children born with very low birth weight have a decreased nephron number. Low nephron mass is associated with adult hypertension, proteinuria, and diabetes mellitus. The histomorphometry and radial glomerular count (RGC) of a total nephrectomy from a child with renal disease associated with extreme prematurity was compared with the kidney from a full-term age-matched child of normal gestation with chronic renal failure due to focal and segmental glomerulosclerosis (FSGS) and to a child without renal disease. Bowman’s space area, mesangium and mesangial tuft area were determined in 50 glomeruli of each specimen by computer-assisted morphometry. RGC was 4 in the ex-preterm child, 8 in the patient with FSGS, and 9 in normal control. The patient with FSGS had larger glomerular area expressed as square micrometers (μm2) of Bowman’s capsule, the mesangium and the mesangial tuft area measurements than the normal control and the child born preterm who subsequently developed renal failure had significantly larger Bowman’s capsule and mesangium than the two controls. This case report begins to identify important pathologic findings of decreased nephron numbers and glomerulomegaly associated with preterm birth.

Pathology - Research and Practice, 2000

Renal tubular dysgenesis (RTD) is a disorder characterized by neonatal renal failure and regular gross renal architecture, although the histological features of immature and shortened proximal tubules lead to neonatal death. The pathogenesis of this condition includes a congenital familial condition, a twin-twin transfusion syndrome, and an angiotensin-converting enzyme inhibitor intake by the mother. The clinical picture shows an association with oligohydramnia, pulmonary hypoplasia, and skull ossification defects. In the present paper, we report the occurrence of RTD in three infants of a con sanguinous couple and compared our data with those of the literature. Our data contirm that late second trimester demonstration of oligohydramnion, with structurally normal kidneys and with or without skull ossification defects, allows the diagnosis of renal tubular dysgenesis, which, however, has to be confirmed by histological and immunohistological examinations of the kidney.

Case Reports in Nephrology and Dialysis

Oligomeganephronic hypoplasia, commonly referred to as oligomeganephronia (OMN), is a rare pediatric disorder characterized by small kidneys. Histologically a paucity of nephrons is observed which show compensatory enlargement. Hyperfiltration injury leads to end-stage kidney disease. Here we report a 23-year-old Caucasian female patient who presented with a 7-year history of nonnephrotic proteinuria, slow worsening of renal function, normal-sized kidneys, normal blood pressure, healthy weight, and normoglycemia. Evaluation of a kidney biopsy specimen revealed sparsely distributed and markedly enlarged glomeruli (glomerular density 0.63/mm2, glomerular diameter 268 µm), focal segmental glomerulosclerosis (FSGS), and 70% effacement of the foot processes. The glomerular basement membrane was normal (mean thickness 285 nm). The genetic analysis of 19 genes known to cause FSGS identified a heterozygous de novo nonsense mutation of PAX2 in exon 4 (NM_003990.3:c.430C>T and NP_003981.2:...

American Journal of Medical Genetics, 1989

Two premature sibs had Potter sequence and died of respiratory failure within the first day. Ultrasonography at 26 weeks during the earlier of the two pregnancies showed complete absence of amniotic fluid, and the urinary bladder was not visualized. Ultrasound examinations during the second pregnancy showed adequate amniotic fluid at 16 and 20 weeks, with a subsequent reduction in fluid volume. Two older sibs had also died of respiratory failure shortly after birth. Postmortem histopathologic studies showed all four sibs to have severely deficient renal tubular development. However, the presence of numerous glomeruli indicated prolific nephrogenesis. Most of the tubules in sections of cortex had the lectinbinding and immunohistochemical characteristics of collecting ducts; proximal tubules were not identified by lectin-binding. Electron-microscopic examination showed a general absence of differentiated characteristics in cortical tubular epithelium, except that rare tubules contained rudimentary proximal tubular brush borders. Three of the sibs were boys, one a girl. The three children that were studied had normal chromosomes. Two unaffected sibs are alive and well. Neither parent has any clinical evidence of renal disease. These studies support the interpretation that renal tubular dysgenesis is autosomal recessive with pleiotropy. However, the relatively late appearance of oligohydramnios makes early diagnosis difficult, even when the condition is suspected.

Zenodo (CERN European Organization for Nuclear Research), 2022

Bilateral renal agenesis/hypoplasia/dysplasia is a lethal malformation in humans with an incidence of 1.3 per 10,000 live births. In the etiology of bilateral renal agenesis/hypoplasia/dysplasia, the genetic factor plays an important role. In addition to genetic factors, the etiology of bilateral renal agenesis/hypoplasia/dysplasia also involves the teratogenic effect of hyperglycemia on the embryo in mothers with insulin-dependent maternal diabetes. The purpose of this paper is to present a special case of bilateral renal agenesis/hypoplasia/dysplasia, which was successfully diagnosed prenatally by ultrasonography, confirmed and managed appropriately, so as to limit the incidence of serious, lethal congenital malformations.

Pediatric Oncall, 2013