renal neonatal autopsy

OBJECTIVES AND BACKGROUND: According to studies, 1% of all pregnancies have an abnormality, with 20-30% of those affecting the genitourinary system. Congenital abnormalities of the kidney and urinary tract (CAKUT) is one of the primary causes of perinatal and neonatal mortality in children. Many extra-renal congenital illnesses accompany these defects, affecting the patient's prognosis. This study aims to determine the subtypes, frequency, and extra-renal defects associated with congenital anomalies of the urinary system, which is the major cause of mortality in fetal and infant autopsies throughout the perinatal and neonatal eras...

BACKGROUND: The South African national cause of death validation (NCODV 2017/18) project collected a national sample of verbal autopsies (VA) with cause of death (COD) assignment by physician-coded VA (PCVA) and computer-coded VA (CCVA). OBJECTIVE: The performance of three CCVA algorithms (InterVA-5, InSilicoVA and Tariff 2.0) in assigning a COD was compared with PCVA (reference standard). METHODS: Seven performance metrics assessed individual and population level agreement of COD assignment by age, sex and place of death subgroups...

OBJECTIVE: To determine whether bladder size is associated with an unfavorable neonatal outcome, in the case of first-trimester megacystis. MATERIALS AND METHODS: This was a retrospective observational study between 2009 and 2019 in two prenatal diagnosis centers. The inclusion criterion was an enlarged bladder (> 7 mm) diagnosed at the first ultrasound exam between 11 and 13+6 weeks of gestation. The main study endpoint was neonatal outcome based on bladder size...

BACKGROUND: Early pregnancy renal anhydramanios (EPRA) occurs when the fetus is anuric before 22 weeks gestational age (GA) and is considered universally lethal. Serial amnioinfusions have successfully ameliorated the lethal pulmonary hypoplasia associated with EPRA and have resulted in cases of neonatal survival, peritoneal dialysis, and renal transplant. OBJECTIVE: We sought to evaluate the lung pathology of untreated fetuses and neonates that had EPRA. STUDY DESIGN: This is a retrospective case series of all fetuses and neonates diagnosed with isolated EPRA that underwent autopsy at a single tertiary care center between 1987 and 2018...

BACKGROUND: Congenital cytomegalovirus (cCMV) infection is the most frequent mother-to-child transmitted infection worldwide and a prevalent cause of neonatal disease and long-term morbidity. The kidney is a target organ for CMV, which replicates in renal tubules and is excreted in large quantities in urine for years in children with cCMV infection. Nonetheless, kidney disease has rarely been reported in cCMV-infected patients. OBJECTIVE: We aimed to describe the available data on renal involvement in patients with cCMV infection at the pathologic, functional, anatomical, and/or clinical levels...

OBJECTIVES: Urinary tract anomalies account for approximately one-quarter of all antenatally detected anomalies. The aim of this study was to identify factors associated with severe adverse neonatal outcomes of a prenatally diagnosed urinary tract anomaly. MATERIAL AND METHODS: A retrospective-prospective study included 101 pregnant women with prenatally diagnosed fetal urinary tract anomalies presented to the Council for Fetal Anomalies. Prenatal diagnoses were compared with autopsy findings in cases of terminated pregnancy or with clinical and operative findings of the infants...

Methadone, an opioid agonist, is the recommended treatment for pregnant women with opioid use disorder (OUD). Fetal/neonatal autopsy findings as well as placental changes in the setting of maternal OUD or methadone maintenance therapy (MMT) are not well-characterized. Here we present a case of a neonate who had exposure to MMT while in utero and died shortly after birth and was subsequently found to have multifocal calcified renal vein thrombosis, a recent inferior vena cava thrombus, and placental features of fetal vascular malperfusion at autopsy...

We report a preterm neonate who had a large cervical cystic hygroma and right chylothorax. She was operated on day-21 and a near-complete resection of cystic hygroma was done. She developed refractory hypoxemia and shock post surgery and died after 24 hours. During autopsy, the chest cavity was found to be filled with chyle. Histopathological examination showed dilated lymphatics in the pleura, hepatic capsule, serosa of stomach and intestines, peri-pancreatic regions, peri-renal capsule and peri-adrenal tissues suggestive of generalised lymphatic dysplasia...

Primary CoQ10 deficiency is a clinically and genetically heterogeneous, autosomal recessive disorder resulting from mutations in genes involved in the synthesis of coenzyme Q10 (CoQ10 ). To date, mutations in nine proteins required for the biosynthesis of CoQ10 cause CoQ10 deficiency with varying clinical presentations. In 2009 the first patient with mutations in COQ9 was reported in an infant with a neonatal-onset, primary CoQ10 deficiency with multi-system disease. Here we describe four siblings with a previously undiagnosed lethal disorder characterized by oligohydramnios and intrauterine growth restriction, variable cardiomyopathy, anemia, and renal anomalies...

Congenital hepatic fibrosis is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. Typical presentation of congenital hepatic fibrosis is in the form of portal hypertension, in adolescents and young adults. We present an unusual case of neonatal cholestasis with rapid deterioration within first 4 months of life, who was diagnosed to have congenital hepatic fibrosis with polycystic kidney disease on autopsy.

Peroxisomal diseases are rare (1:50,000), genetically determined disorders (autosomal recessive), systemic, multiorgan illnesses with prominent involvement of the nervous system, caused either by the failure to form or to maintain the peroxisome, or by a defect in the function of a single or multiple peroxisomal enzymes. Peroxisomes contain approximately 50 enzymes which are responsible for many metabolic reactions, and play an important role in the oxidation of saturated very-long-chain fatty acids (VLCFA)...

Antenatal renal vein thrombosis is a rarely described diagnostic finding, with variable consequences on kidney function. We present the case of an affected fetus, born at 35-week gestation, with intrauterine oligohydramnios and two small kidneys. A renal ultrasound carried out after birth confirmed the presence of prenatal abnormalities. Renal vein thrombosis was not diagnosed at the time. The baby died 20 days later of kidney failure, metabolic acidosis, and polypnea with severe hypotrophy. Autopsy revealed atrophied kidneys and adrenal glands...

BACKGROUND: Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple bone dysplasia, hepatic dysfunction, and growth retardation. All clinical manifestations result from gene mutations encoding pancreatic endoplasmic reticulum eIF2 α kinase (PERK), an endoplasmic reticulum transmembrane protein that plays a role in the unfolded protein response. Histological and ultrastructural lesions of bone and pancreas have been described in animal models and WRS patients...

Congenital mesoblastic nephroma (CMN) is a renal stromal neoplasm of infancy. It comprises 3-10% of all pediatric renal tumors. We report a case of CMN in a 30 week old premature female neonate seen at autopsy who was born to a 26-year-old woman by emergency cesarean section on account of polyhydramnios.

OBJECTIVE: Nephropathy is a known complication in cyanotic congenital heart disease (CCHD). This study was undertaken for an objective analysis of histopathological changes of cyanotic nephropathy at autopsy. DESIGN: Retrospective case records studied. SETTING: Tertiary care teaching hospital affiliated to medical college in Mumbai, India. PATIENTS AND METHODS: The renal histopathological findings of 50 consecutive autopsies in patients with CCHD were compared with 25 age-matched controls...

Four critically ill neonates and two small children have undergone a total of nine postoperative cardiac catheterizations involving mechanical thrombolysis and early post-procedure abciximab for significant venous thrombus obstruction. Bacterial infection was associated in five patients and suspected in a sixth. These procedures achieved near normal venous flow pattern and subsequent long-term seemingly normal central veins in the three survivors (by ultrasound in two patients and by autopsy in the other who subsequently died of sepsis)...

A solitary adrenal gland spanning the midline has been alternatively described as "Horseshoe" or "Butterfly" and is a rare congenital abnormality almost exclusively associated with neonates. There have been 65 reported cases in fetuses and infants, based on ultrasound and autopsy findings. Horseshoe adrenal gland is associated with several congenital anomalies, such as asplenia (52 %), neural tube defects (37 %), renal abnormalities (29 %), and diaphragmatic defects (1 %). Recently, Feldman and colleagues [2] reported the first case of an adult male with horseshoe adrenal gland and posterior midline diaphragmatic anomaly found incidentally with CT imaging...

Preterm birth (birth prior to 37 completed weeks of gestation) may occur at a time when the infant kidney is very immature and nephrogenesis is often ongoing. In autopsied preterm human kidneys and in a baboon model of preterm birth it has been shown that nephrogenesis continues after preterm birth, with a significant increase in the number of glomerular generations and number of nephrons formed within the kidney after birth. Of concern, however, morphologically abnormal glomeruli (with a cystic Bowman's space) are often observed; the abnormal glomeruli are only located in the outer renal cortex, suggesting that it is the recently formed glomeruli (perhaps those formed in the extra-uterine environment) that are affected...

Autosomal recessive polycystic kidney disease (ARPKD) is caused by genetic mutations of the gene encoding fibrocystin, and is characterized by the collecting duct cysts and congenital hepatic fibrosis. We report an autopsy-proven case of ARPKD in a 77-year-old male who presented with rapidly progressive renal and liver dysfunction. He had refused hemodialysis, and died 4 months later. At autopsy, both kidneys were enlarged with numerous small cysts throughout the cortex, which were revealed immunohistochemically to be the collecting ducts...

A 38-week-gestational age male neonatal death from a 27-year-old-mother was reported. The autopsy found multiple congenital anomalies such as scoliosis of thoracic spine with 13 pairs of ribs, anal atresia, bilateral renal agenesis, and clubfeet. These anomalies were diagnosed VACTERL--association that must include at least three out of six principal anomalies of previously mentioned, e.g., (1) V--vertebral defects, (2) A--anal atresia, (3) C--cardiac anomalies, (4) TE--tracheo-esophageal fistula, (5) R--renal anomalies, and (6) L--limb abnormalities...