1,721,032 research outputs found
A practical approach to problems of hypercalcaemia
No full textHypercalcaemia is a rarer problem in children than that of hypocalcaemia. However, when it does occur, it is a condition that requires proper diagnosis before correct treatment can be instituted. Problems may arise either because of excess PTH secretion, e.g. because of parathyroid tumour, or because of inactivating mutations of the calcium-sensing receptor or because some other factor, such as vitamin D or PTHrP, causes hypercalcaemia independently of PTH. In the latter instance, PTH secretion is suppressed. It is often useful to get a clue to the aetiology by examining the urine calcium concentration as this may guide one towards the correct diagnosis. Treatment is aimed at either removing the source of the excess PTH or whichever other factor is involved. In some cases treatment is not necessary as the hypercalcaemia remains asymptomatic and does not cause any problems. If the underlying problem cannot be treated directly, measures can often be taken to reduce the plasma calcium by medical means which can sometimes be used as an interim measure before definitive treatment is undertaken
Approach to the child with hypercalcaemia
No full textHypercalcaemia is rare in children. In adulthood, the causes are most frequently malignancy and primary hyperparathyroidism. In children, however, the aetiologies are diverse and age specific, and many have an underlying genetic basis. Hypercalcaemia is a serious condition that frequently leads to end-organ damage. In order to provide the most appropriate treatment, a key part of the management pathway is to establish the correct diagnosis promptly. When considering a practical approach to hypercalcaemia in children, it is helpful to consider the causes of hypercalcaemia according to the accompanying levels of parathyroid hormone (PTH), indicating whether the causes are PTH dependent or PTH independent. This chapter reviews the recent advances in this area and presents a practical approach to the investigation and subsequent management of this conditio
Recognition and assessment of atypical and ambiguous genitalia in the newborn
No full textThe baby with atypical or ambiguous genitalia is usually born in secondary care. For most clinicians, this is an unfamiliar and challenging scenario with the potential for life-long ramifications arising from a consultation led by an unprepared clinician. Language needs to be used carefully with particular clarity when liaising with parents, local health professionals and the specialist multidisciplinary team. Confidence in the recognition and assessment of atypical or ambiguous genitalia in a newborn will guide the local clinician when deciding on the initial investigations required and is a foundation for subsequent management. The local team have key roles in the initial support for parents as well as managing expectations at a time of great uncertainty. There are numerous different diagnoses that can result in atypical or ambiguous genitalia. The clinical findings should guide the initial investigations, and there are many pitfalls when it comes to interpreting the results. The aim of this article is to provide an initial approach to the management of a baby born with atypical or ambiguous genitalia
Advances in diagnosis and management of childhood osteoporosis
No full textChildhood osteoporosis leads to increased propensity to fracture, and thus is an important cause of morbidity, pain and healthcare utilisation. Osteoporosis in children may be caused by a primary bone defect or secondary to an underlying medical condition and/or its treatment. Primary osteoporosis is rare, but there is an increasing number of children with risk factors for secondary osteoporosis. Therefore it is imperative that all paediatricians are aware of the diagnostic criteria and baseline investigations for childhood osteoporosis to enable timely referral to a specialist in paediatric bone health. This review will discuss the approach to diagnosis, investigation and management of childhood osteoporosis, with particular consideration to advances in molecular diagnosis of primary bone disorders, and current and emerging therapies for fracture reduction
Vitamin D, and maternal and child health
No full textVitamin D has important roles in calcium metabolism and the prevention of rickets and osteomalacia; low levels of 25-hydroxyvitamin D are common in general population and amongst pregnant women. Whilst there is a wealth of observational evidence linking vitamin D deficiency to a wide range of disease outcomes, there are currently few high quality randomised controlled trials to confirm any causal associations, although many are currently in progress. Furthermore, currently, the vast majority of published guidelines recommend standard supplemental vitamin D doses for children and pregnant women, yet there is increasing recognition that individual characteristics and genetic factors may influence the response to supplementation. As such, future research needs to concentrate on documenting definite beneficial clinical outcomes of vitamin D supplementation, and establishing personalised dosing schedules and demonstrating effective approaches to optimizing initiation and adherence
Hyperpigmentation at diabetes technology sites may be indicative of evolving Addison's disease
No full textEarly pontocerebellar hypoplasia with vanishing testes: A new syndrome?
No full textWe report on a full-term male infant with hypoplastic male genitalia and bilateral impalpable testes noted at birth, who over the following months developed increasing hypotonia, apneic episodes, and seizures resulting in his death at age 24 weeks. During this period regression of penile corporeal tissue was observed. An endocrinological diagnosis of primary hypogonadism was made and cerebral imaging at 19 weeks showed reduced periventricular white matter with marked pontocerebellar hypoplasia (PCH)/atrophy, but a well-developed posterior fossa. We propose that this condition constitutes a new form of severe PCH/atrophy with testicular regression that has onset in the fetal period
Hypercalcaemia secondary to ectopic parathyroid hormone expression in an adolescent with metastatic alveolar rhabdomyosarcoma
No full textWe report the case of a 14-year-old male with metastatic alveolar rhabdomyosarcoma, presenting with hypercalcaemia (3.89 mmol/l) and elevated parathyroid hormone (PTH) level (10.2 pmol/l). Imaging demonstrated extensive bony lytic damage, with “floating teeth” in the mandible. Normalisation of calcium levels and bony reformation of the mandible occurred following chemotherapy; PTH levels decreased initially but remained above normal levels. Imaging did not demonstrate any evidence of parathyroid abnormality. Tumour ectopic PTH secretion is a very rare cause of hypercalcaemia of malignancy in children. Hypercalcaemia with an elevated PTH, in the absence of parathyroid-related cause, should prompt investigation for underlying malignancy.</p
Intracardiac thrombosis following intravenous zoledronate treatment in a child with steroid-induced osteoporosis
No full textBisphosphonates are used in childhood osteoporosis but can cause an acute phase reaction (APR) and hypocalcemia. We present a child with cardiac thrombosis following zoledronate, a previously unreported complication. An 11-year-old with Duchenne muscular dystrophy and steroid-induced osteoporosis presented 48 h after first zoledronate infusion with fever, tachycardia, tachypnoea and hypoglycaemia. This was managed as acute adrenal crisis and possible sepsis. He also had hypocalcemia, hypophosphatemia, hyponatraemia and hypokalaemia. Echocardiography performed due to persistent chest pain and tachycardia revealed a left ventricular thrombus. Potential causes for intracardiac thrombosis in this patient include ventricular dysfunction due to acute adrenal crisis or electrolyte disturbance, and hypercoagulability due to the APR. Echocardiography should be considered in children with acute cardiovascular compromise following zoledronate. Stress-dose steroids to cover the APR and a reduced starting dose of zoledronate might have reduced the risk of this complication.</p
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