renal neonatal autopsy

Neonatal hemochromatosis is a rare disease that causes fetal loss and neonatal death in the 1st weeks of life and is one of the most common causes of liver failure in the neonate. The diagnosis is mostly made retrospectively, based on histopathologic features of severe liver fibrosis associated with hepatic and extrahepatic siderosis. Several etiologies may underlie this phenotype, including a recently hypothesized gestational alloimmune disease. Fifty-one cases of liver failure with intrahepatic siderosis in fetuses and neonates were analyzed retrospectively...

BACKGROUND AND AIM: This 6-year retrospective study reports 14 cases of renal malformations, observed in foetuses and newborns. The objective was to evaluate the usefulness of post-mortem examination in cases of renal malformations by a comparison of the post-mortem findings with clinical diagnosis. METHODS: This study included laboratory tests, ultrasonography, karyotype and detailed pathological evaluation of the foetuses and newborns by external, macroscopic, microscopic and placental examination...

Autosomal recessive polycystic kidney disease (ARPKD) is a common inheritable cystic renal disease that has a profound effect on the growing fetus and on subsequent pregnancies, being fatal in 30% to 50% cases in the neonatal period. Prenatal imaging studies are only suggestive of the disorder and it is evident only from the second trimester onwards. Prenatal molecular linkage analysis can identify the disorder, but have a prerequisite of previous DNA analysis of parents and one sibling. ARPKD can be accurately diagnosed on characteristic histopathological features if an autopsy is performed in cases of infant death where the prenatal imaging studies and clinical findings are suggestive of the disease...

Hypertension is an unusual finding in premature infants and warrants an extensive workup. Well-known causes of hypertension include endocrine, renal and cardiac anomalies. Coarctation of the thoracic aorta, a well-recognized cardiac anomaly leading to hypertension can manifest at various ages including the newborn period. In contrast, midaortic syndrome (MAS), also known as midaortic dysplastic syndrome, is a rare clinical syndrome involving hypoplasia of the abdominal aorta (AA) 1 with varying degrees of narrowing of the visceral branches, often presenting as intractable hypertension...

Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia, cysts, and polydactyly. It is a rare syndrome with highest incidence in Gujarati Indians and Finnish population. We report two such cases of MKS in non-Gujarati Indian which were diagnosed by neonatal autopsy.

We have documented the clinical, radiologic, and autopsy findings of 2 fetuses with atelosteogenesis type I, aged 22 and 17 weeks. This rare autosomal dominant lethal skeletal dysplasia is caused by mutation in the FNLB gene. The 17-week-old fetus had some features of atelosteogenesis type II, notably "hitchhiker thumbs," a cleft palate, and midfacial flattening. The histologic demonstration of giant cells in the growth plate cartilage confirmed the diagnosis of atelosteogenesis type I in both fetuses, thereby facilitating accurate prediction of recurrence risks for the parents of the affected fetuses...

Nephrogenesis is ongoing at the time of birth for the majority of preterm infants, but whether postnatal renal development follows a similar trajectory to normal in utero growth is unknown. Here, we examined tissue collected at autopsy from 28 kidneys from preterm neonates, whose postnatal survival ranged from 2 to 68 days, including 6 that had restricted intrauterine growth. In addition, we examined kidneys from 32 still-born gestational controls. We assessed the width of the nephrogenic zone, number of glomerular generations, cross-sectional area of the renal corpuscle, and glomerular maturity and morphology...

OBJECTIVE: Report of a 16q24.1 deletion in a premature newborn, demonstrating the usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn and multiple congenital malformations. DESIGN: Descriptive case report. SETTING: Genetic department and neonatal intensive care unit of a tertiary care children's hospital. INTERVENTIONS: None. PATIENT: We report the case of a preterm male infant, born at 26 wks of gestation...

Although the majority of preterm neonates now survive infancy, there is emerging epidemiological evidence to demonstrate that individuals born preterm exhibit an elevated risk for the development of hypertension and renal impairment later in life, thus supporting the developmental origins of health and disease hypothesis. The increased risk may potentially be attributed to a negative impact of preterm birth on nephron endowment. Indeed, at the time when most preterm neonates are delivered, nephrogenesis in the kidney is still ongoing with the majority of nephrons normally formed during the third trimester of pregnancy...

Defects in mevalonate kinase, a critical rate-limiting enzyme in cholesterol and isoprene metabolism, have been associated with 2 clinical phenotypes: mevalonic aciduria, which presents in infancy or early childhood with growth failure, dysmorphic features, and neurologic disease; and hyperimmunoglobulinemia D and periodic fever syndrome, which usually presents outside the neonatal period as an autoinflammatory periodic fever syndrome. This report describes a kindred with 2 siblings affected by severe mevalonate kinase deficiency (mevalonic aciduria) with perinatal onset...

OBJECTIVES: To report the feasibility of early fetal cystoscopy for the prenatal diagnosis and therapy of severe first-trimester megacystis. METHODS: Between January 2008 and February 2010, early fetal cystoscopy at 16 weeks of gestation was offered to 15 patients whose fetuses presented with severe first-trimester megacystis. All infants were followed up for 6-12 months after birth. Autopsy was always performed whenever fetal or neonatal deaths occurred. RESULTS: Seven patients decided to undergo fetal therapy, and eight elected to continue with expectant observation...

OBJECTIVE: Congenital megalourethra is a rare urogenital malformation characterized by dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa. Postnatal complications include voiding and erectile dysfunction as well as renal insufficiency and pulmonary hypoplasia. To date, only a few prenatally diagnosed cases have been reported. We report on 10 cases diagnosed prenatally and their postnatal/autopsy findings. METHODS: The study involved retrospective chart review of all cases diagnosed antenatally in three tertiary care centers over 5 years...

INTRODUCTION: Polycystic kidney disease is an inherited kidney disease that affects both kidneys and it is characterized by diffuse replacement of renal parenchyma by thousands of microcysts. In time, renal insufficiency develops. There are two forms of PKD: ADPKD, which is detected in adults (children are rarely affected), and ARPK, which is detected in neonates (later presentations do occur, but rarely). OBJECTIVE: The aim of this study was to analyse frequency of polycystic kidney disease, clinical data and morphological characteristics...

Thrombotic events are being increasingly recognized during the neonatal period. An infant girl was born at 29 weeks' gestation after a pregnancy complicated by twin-to-twin transfusion syndrome. After an initial uncomplicated clinical course, her oxygen requirement increased, which was interpreted as an early sign of bronchopulmonary dysplasia. At 3 weeks of age, she suddenly collapsed and died of severe pulmonary hypertension. At autopsy, multiple pulmonary artery emboli and several older renal vein thromboses were found...

The occurrence of congenital epididymal malformations with a cystic component has not been fully characterized. Most epididymal cysts occur later in life and are likely acquired. In addition, congenital malformations of the male excretory system are extremely uncommon in fetuses and neonates, and epididymal dysplastic changes have not been reported in these cases. In this study, we report 20 cases (including 19 fetal/neonatal autopsies and one surgical specimen from an older child) showing the same spectrum of histological findings in the epididymis, characterized by cystic ductal dilation with dysplastic ducts of variable diameters and irregular shapes, with ill-defined walls...

OBJECTIVE: To report the experience with fetal cystoscopy and laser fulguration of posterior urethral values (PUV) for severe lower urinary tract obstruction (LUTO). METHODS: Between July 2006 and December 2008, fetal cystoscopy was offered to 23 patients whose fetuses presented with severe LUTO, favorable urinary analysis and gestational age <26 weeks. Fetal urinary biochemistry was evaluated before and after cystoscopy. All infants were followed 6-12 months after birth...

Renal tubular dysgenesis has been reported in isolated cases of neonatal hemochromatosis (NH). We hypothesized that fetal liver injury in NH impairs proximal renal tubular development via impaired hepatic angiotensinogen (AGT) elaboration. Morphometric analyses were performed of postmortem liver and kidney sections of cases of proven NH and postconception age-matched controls for renal proximal tubule density, hepatocyte mass, and hepatic AGT expression. Proximal tubule density was markedly reduced in NH cases, although they showed a spectrum from mild to severe paucity...

INTRODUCTION: Autosomal recessive polycystic kidney disease is the most common heritable cystic renal disease occurring in infancy and childhood. The clinical spectrum of signs and symptoms of this disease is widely variable ranging from perinatal death to a milder progressive form, which cannot be diagnosed until adolescence. CASE OUTLINE: A female neonate born in the 35th/36th week of gestation. The findings of all standard medical examinations of the neonate done by the mother were within normal limits...

BACKGROUND: Renal tubular dysgenesis is a rare lethal kidney abnormality clinically manifested by olighydramnios, anuria and respiratory distress. Most of the information on this entity is provided by case reports and short series. OBJECTIVES: To evaluate the incidence and comparative frequency of clinical manifestations in different etiologic-pathogenic variants of RTD in Israel and in summarized published data. METHODS: Stillborn and neonatal autopsy material from nine medical centers in northern and central Israel was studied...

We describe the clinical course and autopsy findings of a male infant with hydrops fetalis due to agenesis of the ductus venosus. Fetal echocardiography at 27 weeks in gestation demonstrated hydrops fetalis due to unknown causes. The baby was born at 28 weeks in gestation by emergency caesarean section because of preeclampsia and progressive hydrop fetalis but died immediately at birth. The umbilical vein catheter ran an unusual course: left renal vein and inferior vena cava were opacified after postmortem injection of radiopaque dye into the umbilical vein...