Growth and pubertal development in nephropathic cystinosis

Winkler, L; Offner, G.; Krull, F.; Brodehl, J.

doi:10.1007/bf01956154

Cited by 51 publications

(33 citation statements)

References 27 publications

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“…Girls generally reach puberty at 14-15 years of age [8]. Ovulatory cycles and gonadal endocrine parameters appear normal in female patients [111], and successful pregnancies and deliveries have been observed in women with cystinosis [114]; the condition of the offspring has been completely normal.…”

Section: Late Disease Complicationsmentioning

confidence: 96%

“…Endocrine involvement In patients with nephropathic cystinosis, growth improves after restoration of renal function by kidney transplantation [111]. Hypothyroidism, however, becomes more frequent in post-transplant patients without cysteamine therapy, so that three-fourths of cystinotic patients require thyroid hormone supplementation by the time they are 30 years old [8,13].…”

Section: Late Disease Complicationsmentioning

confidence: 99%

“…4b) [113]. Winkler et al suggested that male patients develop hypergonadotropic hypogonadism due to progressive alteration in the gonadal tissue [111]. In fact, most untreated men with cystinosis have low levels of testosterone and high levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) and may benefit from testosterone supplements to restore secondary sexual characteristics.…”

Section: Late Disease Complicationsmentioning

confidence: 99%

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Nephropathic cystinosis: late complications of a multisystemic disease

2008

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Cystinosis is a rare autosomal recessive disorder due to impaired transport of cystine out of cellular lysosomes. Its estimated incidence is 1 in 100,000 live births. End-stage renal disease (ESRD) is the most prominent feature of cystinosis and, along with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, has accounted for the bulk of deaths from this disorder. Prior to renal transplantation and cystine-depleting therapy with cysteamine for children with nephropathic cystinosis, their lifespan was approximately 10 years. Now, cystinotic patients have survived through their fifth decade, but the unremitting accumulation of cystine has created significant non-renal morbidity and mortality. In this article we review the classic presentation of nephropathic cystinosis and the natural history, diagnosis, and treatment of the disorder's systemic involvement. We also emphasize the role of oral cysteamine therapy in preventing the late complications of cystinosis.

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Section: Late Disease Complicationsmentioning

confidence: 96%

Section: Late Disease Complicationsmentioning

confidence: 99%

Section: Late Disease Complicationsmentioning

confidence: 99%

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Nephropathic cystinosis: late complications of a multisystemic disease

2008

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“…Catch-up growth is observed during remission of nephrotic syndrome and discontinuation of glucocorticoids [7,8]. In children with chronic renal failure, the amount of catch-up growth following transplantation appears to depend on age and on the post-transplantation dose of glucocorticoid administered [9,10,11,12].…”

Section: Introductionmentioning

confidence: 98%

Catch-up growth: possible mechanisms

Gafni

Baron

2000

Pediatric Nephrology

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Many systemic diseases impair linear growth. If remission occurs, growth will often accelerate beyond the normal rate for age, a phenomenon termed "catch-up growth." As a result, final height is improved, although this recovery of adult stature is frequently incomplete. Two principal models have been proposed to explain catch-up growth. The first model postulates a central nervous system mechanism that compares actual body size with an age-appropriate set-point and then adjusts growth rate accordingly. However, there is recent evidence that growth inhibition in a single growth plate is followed by local catch-up growth, a finding not readily explained by the neuroendocrine model. Thus, a new model has been proposed that places the mechanism within the growth plate itself. According to this model, growth-inhibiting conditions decrease proliferation of growth plate stem cells, thus conserving their proliferative potential. Additional research is needed to determine whether the mechanisms governing catch-up growth are local, systemic, or both.

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“…Barrier contraception provides the safest options for transplant patients (Winkler et al, 1993;Henning et al, 1988;Morel et al, 1991). Condoms decrease the risk of sexually transmitted disease, but are rarely used as the sole contraceptive option in adolescents due to the high failure rate (Sucato et al, 2003).…”

Section: Physiological Outcomesmentioning

confidence: 99%

The New Normal: A Bourdieusian Examination of Living Into Young Adulthood Being a Paediatric Heart Transplant Recipient

Mauthner

Angus

Gastaldo

et al. 2014

The Journal of Heart and Lung Transplantation

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Improved success of paediatric cardiac transplantation has resulted in increased survival of recipients into young adulthood (19 to 29 years of age). Young adults who received a heart transplant during childhood have experienced multiple life sustaining procedures. As survival and longevity increase, it is clear that transplant recipients experience negative physiological, psychological and social sequelae. With heart transplant offering individuals a chance to extend life into young adulthood, recipients need lifelong care and at age 18 they will transition from paediatric to adult healthcare facilities. The study addressed young adults circumstances of existence and their competing interests within various social environments. This research project applied Pierre Bourdieu's theoretical concepts of habitus, field and capital, to conceptualize and engage with empirical knowledge production about young adults who have received a heart transplant during childhood. Using visual methodology, focused open-ended interviews were conducted with 12 young adults who had a heart transplant during childhood. Bourdieu's work iii provided a theoretical framework to investigate transplant recipients' identities and social repositioning in relation to dominant discourses of organ transplant and shifting relationships with health services providers. This study involved an iterative process to identify recipients' encounters and new compositions in relation with others, in order to answer the research objective. These findings highlight that young adult transplant recipients struggle with relational dispositions that excludes them from various fields of social engagement; their struggle and exclusion from various fields is symbolic and is embedded in the structure of the dominant social order of the field from where they become excluded; the social order is taken up and embodied, leading young transplant recipients to practices of accommodation and "normalization". Changes

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Growth and pubertal development in nephropathic cystinosis

Cited by 51 publications

References 27 publications

Nephropathic cystinosis: late complications of a multisystemic disease

Nephropathic cystinosis: late complications of a multisystemic disease

Catch-up growth: possible mechanisms

The New Normal: A Bourdieusian Examination of Living Into Young Adulthood Being a Paediatric Heart Transplant Recipient

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