Nephropathic Cystinosis in Adults

2016 ◽  
Author(s):  
Aude Servais
Keyword(s):  
Age Of Onset ◽  
Late Onset ◽  
First Year ◽  
Nephropathic Cystinosis ◽  
Lysosomal Storage ◽  
Crystal Deposition ◽  
Proximal Tubulopathy ◽  
Stage Renal Disease ◽  
End Stage ◽  
First Year Of Life

Cystinosis is an autosomal recessive lysosomal storage disorder caused by a defect in the carrier-mediated system that normally transports cystine out of lysosomes. As a consequence, tissues accumulate variable amounts of the disulphide amino acid cystine. Three overlapping clinical phenotypes are recognized, varying in severity and age of onset. The most severe, the infantile nephropathic form (MIM 219800), appears in the first year of life. The late-onset form (MIM 219900) is also nephropathic, while ocular, non-nephropathic cystinosis manifests largely with corneal crystal deposition (MIM 219750). Infantile cystinosis is the most common form. Affected children develop renal proximal tubulopathy at 6 to 12 months of age. In the absence of treatment, renal failure occurs, with progression to end-stage renal disease (ESRD). Cystine crystal deposition in the cornea leads to photophobia and continuous widespread cystine accumulation eventually leads to rickets, retinal, endocrinological (hypothyroidism and impaired glucose tolerance), hepatic, gastrointestinal, muscular, and neurological abnormalities.

scholarly journals The Struggling Odyssey of Infantile Primary Hyperoxaluria

2021 ◽  
Vol 9 ◽  
Author(s):  
Adrien Guillaume ◽  
Benedetta Chiodini ◽  
Brigitte Adams ◽  
Karin Dahan ◽  
Georges Deschênes ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Pediatric Nephrology ◽  
Primary Hyperoxaluria ◽  
Bone Lesions ◽  
First Year ◽  
Type I ◽  
Stage Renal Disease ◽  
End Stage ◽  
Combined Strategy ◽  
First Year Of Life

Introduction: Oxalate overproduction in Primary Hyperoxaluria type I (PH1) leads to progressive renal failure and systemic oxalate deposition. In severe infantile forms of PH1 (IPH1), end-stage renal disease (ESRD) occurs in the first years of life. Usually, the management of these infantile forms is challenging and consists in an intensive dialysis regimen followed by a liver-kidney transplantation (combined or sequential).Methods: Medical records of all infants with IPH1 reaching ESRD within the first year of life, diagnosed and followed between 2005 and 2018 in two pediatric nephrology departments in Brussels and Paris, have been reviewed.Results: Seven patients were included. They reached ESRD at a median age of 3.5 (2–7) months. Dialysis was started at a median age of 4 (2–10 months). Peritoneal dialysis (PD) was the initial treatment for 6 patients and hemodialysis (HD) for one patient. Liver transplantation (LT) was performed in all patients and kidney transplantation (KT) in six of them. A sequential strategy has been chosen in 5 patients, a combined in one. The kidney transplanted as part of the combined strategy was lost. Median age at LT and KT was 25 (10–41) months and 32.5 (26–75) months, respectively. No death occurred in the series. At the end of a median follow-up of 3 years, mean eGFR was 64 ± 29 ml/min/1.73 m2. All patients presented retinal and bone lesions and five patients presented bones fractures.Conclusion: Despite encouraging survival figures, the morbidity in IPH1 patients remains extremely heavy and its management presents a huge challenge. Thanks to the newly developed RNA-interference drug, the future holds brighter prospects.

scholarly journals Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report

2021 ◽  
Vol 14 (12) ◽  
pp. 1304
Author(s):  
Valeria Di Stefano ◽  
Marta Mancarella ◽  
Antonia Camporeale ◽  
Anna Regalia ◽  
Marta Ferraresi ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Cardiac Involvement ◽  
Late Onset ◽  
Left Ventricular ◽  
Lysosomal Storage ◽  
Fabry Patient ◽  
First Case ◽  
Gla Gene ◽  
Stage Renal Disease ◽  
End Stage

Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A activity and, consequently, to glycosphingolipid accumulation in a wide variety of cells. Fabry disease due to N215S (c.644A>G, p.Asn215Ser) missense mutation usually results in a late-onset phenotype presenting with isolated cardiac involvement. We herein present the case of a patient with N215S mutation with cardiac involvement, namely left ventricular hypertrophy and ventricular arrhythmias, and end-stage renal disease requiring kidney transplantation. To the best of our knowledge, this is the first report of a kidney-transplanted Fabry patient treated with oral pharmacologic chaperone migalastat.

scholarly journals Young children with Noonan syndrome: evaluation of feeding problems

2020 ◽  
Vol 179 (11) ◽  
pp. 1683-1688
Author(s):  
Jos M. T. Draaisma ◽  
Joris Drossaers ◽  
Lenie van den Engel-Hoek ◽  
Erika Leenders ◽  
Joyce Geelen
Keyword(s):  
Young Children ◽  
Noonan Syndrome ◽  
Early Onset ◽  
Late Onset ◽  
Tube Feeding ◽  
Genetic Mutation ◽  
First Year ◽  
Feeding Problems ◽  
Genetic Syndrome ◽  
First Year Of Life

Abstract Noonan syndrome (NS) is a common genetic syndrome with a high variety in phenotype. Even though genetic testing is possible, NS is still a clinical diagnosis. Feeding problems are often present in infancy. We investigated the feeding status of 108 patients with clinically and genetically confirmed NS. Only patients with a documented feeding status before the age of 6 were included. A distinction was made between patients with early onset feeding problems (< 1 year) and children with late onset feeding problems (> 1 year). Seventy-one of 108 patients had feeding problems, of which 40 patients required tube feeding. Children with a genetic mutation other than PTPN11 and SOS1 had significantly more feeding problems in the first year. Fifty-two of all 108 patients experienced early onset feeding problems, of which 33 required tube feeding. A strong decrease in prevalence of feeding problems was found after the first year of life. Fifteen children developed feeding problems later in life, of which 7 required tube feeding. Conclusion: Feeding problems occur frequently in children with NS, especially in children with NS based on genetic mutations other than PTPN11 and SOS1. Feeding problems develop most often in infancy and decrease with age. What is Known:• Young children with Noonan syndrome may have transient feeding problems.• Most of them will need tube feeding. What is New:• This is the first study of feeding problems in patients with clinically and genetically proven Noonan syndrome.• Feeding problems most often develop in infancy and resolve between the age of 1 and 2.

Mucolipidosis Type IV: Clinical Spectrum and Natural History

PEDIATRICS ◽  
1987 ◽  
Vol 79 (6) ◽  
pp. 953-959
Author(s):  
Naomi Amir ◽  
Joel Zlotogora ◽  
Gideon Bach
Keyword(s):  
Age Of Onset ◽  
Clinical Manifestations ◽  
Psychomotor Retardation ◽  
Clinical Spectrum ◽  
Lysosomal Storage ◽  
Mucolipidosis Type Iv ◽  
Type Iv ◽  
First Year Of Life ◽  
Developmental Features ◽  
Mucolipidosis Type

The clinical spectrum and developmental features of mucolipidosis type IV, a recessive lysosomal storage disorder, are presented. The evaluation was based on information from the clinical charts and information obtained from the families of 20 patients between the ages of 2 to 17 years. The clinical manifestations of the disease, profound psychomotor retardation and visual impairment, appear during the first year of life. Definitive diagnosis is made by electron microscopy which reveals storage organelles typical of the mucolipidoses. This study details, for the first time, the heterogeneity of the ophthalmologic features, specifically as pertains to the age of onset, degree and clinical course of the corneal opacities, and the retinal involvement. Although the top developmental level was found to be 12 to 15 months in language and motor function, the course of the disease is protracted for some children, who show only a slight improvement, and others, little if any deterioration despite the early infantile onset of the disease. This presentation provides guidelines for the clinical diagnosis of mucolipidosis type IV.

Renal transplantation in the first year of life: the treatment of choice for infants with end-stage renal disease.

1992 ◽  
Vol 2 (12) ◽  
pp. S228
Author(s):  
J S Najarian ◽  
P S Almond ◽  
M Mauer ◽  
B Chavers ◽  
T Nevins ◽  
...  
Keyword(s):  
Renal Failure ◽  
Renal Transplantation ◽  
Survival Rate ◽  
Living Donor ◽  
Patient Survival ◽  
First Year ◽  
End Stage Renal Failure ◽  
End Stage ◽  
First Year Of Life ◽  
Patient Survival Rate

The treatment of choice for end-stage renal failure within the first year of life is controversial. Between September 1970 and February 1991, we performed 28 kidney transplants (27 primary, 1 retransplant, 23 living donor, 5 cadaver) in infants less than 1 yr of age (mean, 7 +/- 2 months; range, 6 wk to 12 months). The 1-yr patient survival rate for living donor recipients was 100% versus 20% for cadaver recipients (P = 0.0001). The 1-yr graft survival rate for living donor recipients was 96% versus 20% for cadaver recipients (P = 0.001). The 1-yr patient survival rate for cyclosporin A (CSA) recipients (N = 12) was 100% versus 75% for non-CSA recipients (P = 0.03). The 1-yr graft survival rate for CSA recipients was 92% versus 75% for non-CSA recipients (P = 0.08). There was no difference in the number of rejection episodes or serum creatinine levels in CSA versus non-CSA recipients. Compared with pretransplant values, the mean posttransplant standard deviation scores (SDS) for height (N = 18), weight (N = 22), and head circumference (N = 8) improved: height SDS from -1.9 to -1.5 (not significant); weight SDS from -2.5 to 0.6 (P less than 0.0005); head circumference SDS from -2.0 to -0.7 (P = 0.01). Because no other renal replacement therapy can match these results, we conclude that renal transplantation is the treatment of choice for infants with end-stage renal failure.

Meningococcal Meningitis in Familial Deficiency of the Fifth Component of Complement

PEDIATRICS ◽  
1981 ◽  
Vol 67 (6) ◽  
pp. 882-886
Author(s):  
Georges Peter ◽  
Mary Beth Weigert ◽  
Arthur A. Bissel ◽  
Ronald Gold ◽  
Donald Kreutzer ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Early Adulthood ◽  
Meningococcal Meningitis ◽  
Host Susceptibility ◽  
Meningococcal Infection ◽  
First Year ◽  
Hemolytic Assay ◽  
The Family ◽  
Hemolytic Complement Activity ◽  
First Year Of Life

Absence of the fifth component of complement (C5) by immunochemical assay and marked deficiency by hemolytic assay (&lt;0.1%) was found in a family in which the oldest male child had suffered severe and recurrent meningococcemia at age 15 years, two brothers developed meningococcal meningitis four years later (at ages 18 and 14 years), and a sister had the gonococcal arthritis-dermatitis syndrome. Although group-specific meningococcal antibody was present in the sera from all four siblings, serum bactericidal activity against Neisseria meningitidis could be demonstrated only in the presence of exogeous rabbit complement. Serum total hemolytic complement activity was undetectable in all four, but was restored to normal by the addition of purified C5. Subsequently, a second episode of group Y meningococcal meningitis was experienced by one brother and presumed gonococcal arthritis-dermatitis syndrome recurred in the sister. The family is the largest C5-deficient kindred to be reported and emphasizes the importance of C5 in host susceptibility to invasive Neisseria infections. In contrast to the peak incidence of N meningitidis disease in the general population in the first year of life, age of onset of meningococcal infection in these patients and in the 13 previously reported patients with terminal complement component deficiency has usually been in adolescence and early adulthood.

La diagnosi precoce di malattia

2019 ◽  
Vol 31 (1) ◽  
pp. 58-60
Author(s):  
Federica Rossi ◽  
Federico Pieruzzi
Keyword(s):  
Wide Spectrum ◽  
Delayed Diagnosis ◽  
Clinical Manifestations ◽  
The Body ◽  
Lysosomal Storage ◽  
Cerebrovascular Complications ◽  
Risk Patients ◽  
Alpha Galactosidase ◽  
Stage Renal Disease ◽  
End Stage

Anderson-Fabry disease is an X-linked, lysosomal, storage disorder characterized by the decreased activity of alpha-Galactosidase A, which results in accumulation of globotriaosylceramide (Gb-3) in cells and tissues throughout the body, leading to a wide spectrum of clinical manifestations. Patients are often misdiagnosed or diagnosed late in their life. This is due to the phenotypic heterogeneity, the poor awareness of this rare disease, and many pitfalls when making a differential diagnosis, in adulthood, as well as in the early stages. Delayed diagnosis has significant clinical implications, because the progression of the disease over time can lead to irreversible end-stage renal disease and life-threatening cardiovascular or cerebrovascular complications. Early diagnosis remains essential in order to start an early treatment and reduce the progression of the disease, thus maximizing the chance to improve patient outcomes. Newborn screening, high-risk patients’ identification, and increasing pediatricians’ and clinicians’ knowledge on this condition, are good strategies to avoid late referrals of Anderson-Fabry patients to reference centers.

scholarly journals P1541HEMODIALYSIS IN END-STAGE RENAL DISEASE PATIENTS OVER 75 YEARS OLD

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Tasnim Mesbahi ◽  
Barbouch Samia ◽  
Fattoum Safa ◽  
Najjar Mariem ◽  
Jebali Hela ◽  
...  
Keyword(s):  
Renal Disease ◽  
End Stage Renal Disease ◽  
Older Patients ◽  
Cox Model ◽  
Dialysis Initiation ◽  
First Year ◽  
Younger Patients ◽  
Significant Difference ◽  
Stage Renal Disease ◽  
End Stage

Abstract Background and Aims Over the last decade, the age of dialysis patients has been increasing steadily worldwide. The benefits of dialysis in older people with end stage renal disease (ESRD) are not clear. We will try to evaluate whether dialysis in older has survival advantage compared to younger people. Method It is a prospective descriptive and analytic study including 229 patients who initiated chronic hemodialysis during the period between January and June 2017. Patients were classified into two groups by age at dialysis initiation. Patients above 75 years of age were considered old (old group OG). Patients aged less then 75 years old were considered young (young group YG). Primary outcome was old patient’s survival during the first 3 and 12 months from the dialysis initiation. Results Among a total of 229 new patients who began dialysis treatment, 41 (17,9%) ESRD were above 75 years of age.The sex ratio was 0,95 and 1,54 in respectively in OG and YG (p = 0,167). Diabetes was present in 56% of the elderly and in 59% of the younger group (p = 0,72) and was more frequently the cause of ESRD in the two groups. The average of modified Charlson Comorbidity Index was 6,7 ± 2,3 and 3,9 ± 2,6 respectively in OG and YG(p = 10-3). Younger patients had been referred earlier to nephrologists than the older ones. In fact, glomerular filtration rate at the beginning of the follow up was 18,7 ± 8,9 ml/min/1,73 in OG and 25,4 ± 16,2 in YG (p = 0,004). There was no statically significant difference between the two groups in the frequency of the use of temporary catheters at dialysis initiation (p = 0,778) and the urgent or planned initiation of dialysis (p = 0,298). Younger patients required hospitalization to organize dialysis initiation more than older patients (51,6% VS 26,8%; p = 0,005). Compared with the group of younger patients, Cox model showed an incremental increase in mortality associated with older patients’ group during the first year of HD (p = 0,036). However, there was no difference between OG and YG in the mortality rate during the first 3 months of HD (p = 0,102). Conclusion We may conclude that life expectancy of patients who began dialysis above 75 years is significantly shorter than younger patients in the first year of HD. In the other hand, the difference between the 2 groups wasn’t significant regarding the conditions of dialysis initiation.

Sign in / Sign up

Export Citation Format

Share Document