Nephrotic syndrome on sickle cell disease: the impact of Hydroxyurea.

Nephropathy is a common under-recognised complication of sickle cell disease (SCD) and one of the main factors of poor prognosis in these patients. The association between nephrotic syndrome and SCD in children is rare. Strategies for sickle cell nephropathy prevention are still poorly established. Blood pressure control as well as monitoring of microalbuminuria and renal function are mandatory. The use of antiproteinuric drugs, such as anti-ACE inhibitors (ACEis) and hydroxyurea, should be considered in early stages. Here, we report a case of a female adolescent with SCD and inaugural nephrotic syndrome who, after an initial treatment failure with corticotherapy, had a remarkable recovery after treatment with hydroxyurea and ACEis.

Use of gabapentin in the treatment of chronic pain in an adolescent with sickle cell disease.

Vaso-occlusive crises are the most common manifestation of sickle cell disease (SCD) and the main cause of hospital admission in these patients. There is emerging evidence that vaso-occlusive pain has both nociceptive and neuropathic components. However, the treatment of SCD-related pain with neuropathic drugs has not yet been systematically studied, particularly in children. We describe a 14-year-old girl with SCD and multiple hospital admissions for pain management for severe acute vaso-occlusive pain episodes. The patient was evaluated by a multidisciplinary team of specialists which considered that the chronic, refractory pain she was experiencing for years was probably neuropathic in origin and it was decided to start oral gabapentin (300 mg/day). At 10 months follow-up, the patient reported remarkable improvement in her quality of life with a significant decrease in the number of hospital admissions (three admissions for acute vaso-occlusive pain episodes in 10 months versus the previously monthly recurrences).

An unusual cause of neonatal cyanosis .

We report a case of a female neonate whose pulse oximetry screening for congenital heart disease at 40 h of life was positive. The pregnancy was uneventful with no relevant family history. The neonate presented with bluish discolouration of the skin lasting until day 15. Cardiovascular examination and chest radiography were normal. Septic screening was negative. Oxygen therapy was started with poor response; investigations revealed a methaemoglobinaemia of 7.4%. The methaemoglobin level reached a peak of 15% on day 10, falling thereafter. The infant was discharged by day 20 with a normal physical examination and a methaemoglobinaemia of 11.4%. By 2 months of age this had fallen to 2.4%. Further investigation revealed a haemoglobin M variant: a heterozygous mutation of the γ globin gene known as Hb F-M Viseu. The mutation occurs in the γ chain, therefore the methaemoglobinaemia is transitory, resolving with the transition from fetal to adult haemoglobin.

Sickle cell disease in children: chronic complications and search of predictive factors for adverse outcomes.

BACKGROUND: Sickle cell disease (SCD) has extremely variable phenotypes, and several factors have been associated with the severity of the disease. OBJECTIVES: To analyze the chronic complications of SCD and look for predictive risk factors for increased severity and number of complications. METHODS: Retrospective study including all children followed for SCD in the Paediatric Haematology Unit of a tertiary hospital in Portugal, who completed 17 yr old between the years 2004 and 2013. RESULTS: We identified 44 patients, 55% female and 98% black. Chronic complications occurred in 80% of cases. Slight dilatation of the left ventricle was the most frequent complication (47.7%), followed by respiratory function disturbs (43.2%), microlithiasis or cholelithiasis (40.9%), increased flow velocity of cerebral arteries (31.8%), enuresis, delayed puberty and bone abnormalities (6.8% each), sickle cell retinopathy and leg ulcer (4.6% each) and recurrent priapism (2.3%). We identified a statistically significant association between leukocytes >15 000/µL and a higher number of hospitalizations (P < 0.001) and chronic complications of the disease (P = 0.035). The occurrence of dactylitis in first year of life was also significantly associated with a higher number of hospitalizations (P = 0.004) and chronic complications (P = 0.018). The presence of α-thalassemia was associated with a lower number of chronic complications (P = 0.036). CONCLUSIONS: Leucocytosis and dactylitis in the first year of life can be predictors of SCD severity, while the presence of α-thalassemia can be protective. The determination of early predictors of chronic complications of SCD may improve the comprehensive care of these patients.

Hepatitis-associated aplastic anaemia: a poor prognosis.

A 13-year-old boy presented with spontaneous skin and mucosal bleeds 3 weeks after acute hepatitis of unknown aetiology. Laboratory analyses revealed pancytopenia and bone marrow biopsy that confirmed the diagnosis of aplastic anaemia. Other causes of congenital and acquired aplastic anaemia were excluded. He was diagnosed with hepatitis-associated aplastic anaemia. He developed a critical clinical condition, becoming totally dependent on erythrocyte and platelet transfusions, and severe neutropenia, which led to invasive bacterial infection. He died due to sepsis with multiple organ failure 3 months after admission.

Severe congenital thrombocytopaenia--first clinical manifestation of Noonan syndrome.

This report focuses on a male infant, the first born of non-consanguineous parents diagnosed with polyhydramnios at 26 weeks of gestation. The newborn was admitted during the neonatal period with bleeding diathesis associated with a low platelet count at birth (5×10(9)/l).The authors registered a persistent low platelet count (9000-129 000/l) during the infants 1st year of life. Physical examination revealed a petechial rash, a dysmorphic face and bilateral cryptorchidism, in the absence of organomegaly. Additionally, cardiologic evaluation revealed an aortic valve dysplasia and an atrial septal defect, while bone marrow biopsy and aspiration were found normal. Throughout the investigation, the authors excluded congenital infection, alloimmune and familiar thrombocytopaenia, Fanconi anaemia and thrombocytopaenia absent radius syndrome. The cytogenetic analysis revealed a mutation in the PTPN11 gene associated with Noonan syndrome. Here the author highlights that severe neonatal thrombocytopaenia is a manifestation that should be considered in the diagnosis and clinical management of Noonan's syndrome.