China
Africa
Explore chapters and articles related to this topic
Carnitine-acylcarnitine translocase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Hepatomegaly is a regular occurrence in this disease, and size tends to increase with time. Hepatic failure has also been recorded [2, 14]. In one patient, there was nephromegaly. Histologic examination of the liver may reveal massive macrovascular steatosis (Figures 36.3 and 36.4) [2, 3], as well as some fibrosis. Muscle histology has been normal. Mental development and growth have been normal [1], but most of these patients have died in infancy. One patient [10] developed microcephaly. Terminal episodes in most were cardiorespiratory failure and cardiac arrhythmia. In one, there was a pulmonary hemorrhage and death at eight days of life [3].
Renal Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Controlled trials in adults with ADPKD show that low protein diets, control of hypertension and cyst surgery have little, if any, significant influence on progression to renal failure. However, hypertension in PKD should be vigorously treated to reduce cardiovascular damage and possibly slow progression. Renal transplantation is effective, although native nephrectomy may be required for nephromegaly or recurrent UTIs. Some children with ARPKD develop hepatic fibrosis and portal hypertension, which may require sequential or combined liver–kidney transplantation. Hepatic cysts and Berry aneurysms in patients with ADPKD may also require treatment.
Genito-Urinary Tract Anomalies
Published in Asim Kurjak, CRC Handbook of Ultrasound in Obstetrics and Gynecology, 2019
Assessment of renal size is important because certain abnormalities, such as infantile polycystic kidney disease, may present with nephromegaly. The ureters are usually not visualizable; however, a mild transitory dilatation can occasionally be seen in normal fetuses. Visualization of the fetal bladder is an important step in documenting the presence of normal renal functioning. The bladder is a dynamic structure, with constant filling and emptying in the normal fetus.
Transformation of CMML to AML presenting with acute kidney injury
Published in Journal of Community Hospital Internal Medicine Perspectives, 2020
Rebecca DeBoer, Ian Garrahy, Andrew Rettew, Robert Libera
One cause for glomerular dysfunction is direct infiltration of the kidneys by blasts which can cause enlarged kidneys as a sign of leukemic infiltration [8] which most commonly occurs in AML with monocytic differentiation, like our patient. This particular AML subtype predisposes patients to granulocytic sarcomas, or chloromas, which are both terms used to describe an extramedullary tumor occurring in soft tissue or bone with the presence of atypical myeloid or monocytic blast cells [9]. The presence of renal leukemic involvement is extremely rare about 1%, although there are a few reported cases of renal failure secondary to diffuse bilateral infiltration [10]. In our case, there was no reported nephromegaly on CT imaging.
Budd Chiari syndrome associated with AL amyloidosis: a coagulation paradox
Published in Amyloid, 2018
Guilherme Grossi Lopes Cançado, Luciana Costa Faria, Fernanda Maria Farage Osório, Paula Vieira Teixeira Vidigal, Cláudia Alves Couto, Teresa Cristina de Abreu Ferrari
A 55-year-old woman presented with weight loss of 25 kg in 12 months, high liver enzymes in a cholestatic pattern – gamma glutamyltransferase: 1672 U/L (upper normal limit [UNL]: 43 U/L), alkaline phosphatase: 296 U/L (UNL: 126 U/L), aminotransferases AST: 45 U/L [UNL: 46 U/L] and ALT: 40 U/L [UNL: 69 U/L]), seric albumin: 2.24 g/dL, normal bilirrubins and INR: 1.11. Creatinine level was 1.3 mg/dL. Serologies for hepatitis B and C viruses and auto-antibodies were negative. Ceruloplasmine, alpha-1-antitrypsin and iron load tests were in the normal range. Abdominal ultrasonography revealed hepatomegaly and magnetic-resonance cholangio-pancreatography demonstrated normal intra- and extra hepatic biliary ducts. Alcohol, drugs, herbs, supplements and medication consumption were denied. The liver biopsy showed normal architecture with areas of centrilobular congestion and necrosis, as well as sinusoidal dilatation, suggesting the diagnosis of BCS. On abdominal computed tomography angiography, thrombosis of right and middle hepatic veins, intrahepatic venous collaterals and a relative increase in caudate and left lobes size with hepatomegaly were noted (Figure 1(A)). Laboratory investigation for common thrombophilic conditions resulted negative. JAK2 mutation was also not detected. The Doppler echocardiography showed a normal ventricle wall thickness and ejection fraction. A screening for neoplasia was performed – upper digestive endoscopy, colonoscopy and computed tomography of the thorax – all of them were unremarkable, except for the presence of large oesophageal varices. Variceal band ligations were performed in a 15-day interval until eradication. Anticoagulation using standard heparinization for three days followed by warfarin was then initiated. The patient evolved with recurrent vomiting, severe orthostatic hypotension and progressive weight loss. In this context, AL amyloidosis associated with adrenal insufficiency was suspected. Basal serum cortisol concentration was normal. Serum immunofixation electrophoresis was positive for a monoclonal protein spike (identified as λ light chain). The 24-h urine evaluation revealed a nephrotic-range proteinuria (3.76 g/24 h). β2-microglobulin was also increased. A radiographic skeletal bone survey did not show lytic lesions. Ultrasonographic evaluation of the kidneys and urinary tract revealed bilateral nephromegaly, as well as the computed tomography. A bone marrow core biopsy demonstrated amyloid deposition on Congo-red staining, further confirming the diagnosis of AL amyloidosis. In this context, the patient was started on dexamethasone and cyclophosphamide. Haematopoietic stem cell transplantation was contraindicated due to severe dysautonomia and renal disease. Unfortunately, 3 months after the diagnosis, she developed a haemorrhagic stroke and died after uncal herniation (Figure 1(B)).