Renal transplantation has transformed cystinosis from a fatal pediatric disease into a treatable one, with which patients can survive into adulthood. We report an infantile cystinosis treated with renal transplantation. H. [sjkdt.org]

In: Cognitive and Behavioral Abnormalities of Pediatric Diseases, Nass RD, Frank Y, eds. 2010 Oxford University Press, New York, NY. pp. 333-341. Gahl WA. Cystinosis. [rarediseases.org]

Mutation analysis in patients with juvenile and adult cystinosis a Discussion Cystinosis provides a good example of a “pediatric” disease with a spectrum extending into adult medicine. [cjasn.asnjournals.org]

MO is a renal pathologist who helped diagnosis the patient. SI supervised the study. All authors read and approved the final manuscript. Consent for publication The patient and his mother gave informed consent for the publication of data. [link.springer.com]

Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year [ncbi.nlm.nih.gov]

Cystinosis may present with symptoms of polyuria, thirst, failure to thrive, growth retardation, vomiting, periods of dehydration, constipation and developmental delay. [jcdr.net]

Infants with the disorder are extremely fussy babies and initially show failure to thrive and later failure to grow normally. [avrobio.com]

The disease results in deposition of crystals throughout the body; if untreated, it leads to failure to thrive, profound metabolic imbalance, early end-stage renal disease, thyroid failure, and multiorgan dysfunction. [nejm.org]

Case Report A 3-year-old female child was referred to our institution for failure to thrive, polyuria, polydipsia, and salt craving. [indianjnephrol.org]

While unconventional, it seemed more acceptable to lay the book out under the relatively limited and broad headings which ophthalmologists use as indications for enucleation: "trauma", "tumour", "endophthalmitis", "vascular disease", etc. [books.google.com]

Chronic rejection: prospects for therapeutic intervention in fibroproliferative vascular disease. Exp Clin Transplant. 2003 Jun; 1(1):35-8. PMID: 15859905. View in: PubMed Chua MS, Sarwal MM. Microarrays: new tools for transplantation research. [profiles.ucsf.edu]

الصفحة 53 - Infants with ZS present in the neonatal period with characteristic dysmorphic features (prominent forehead, large anterior fontanelle, broad nasal bridge, epicanthal folds, high arched palate, micrognathia, redundant neck skin folds, clinodactyly [books.google.com]

Seite 53 - Infants with ZS present in the neonatal period with characteristic dysmorphic features (prominent forehead, large anterior fontanelle, broad nasal bridge, epicanthal folds, high arched palate, micrognathia, redundant neck skin folds, clinodactyly [books.google.de]

The clinical spectrum of the storage disorders is wide, ranging from prenatal hydrops fetalis to mild disease in adulthood. Suggestive signs may include coarsening of facial features,... ‏ [books.google.com]

The clinical spectrum of the storage disorders is wide, ranging from prenatal hydrops fetalis to mild disease in adulthood. Suggestive signs may include coarsening of facial features,... ‎ [books.google.de]

الصفحة 53 - Infants with ZS present in the neonatal period with characteristic dysmorphic features (prominent forehead, large anterior fontanelle, broad nasal bridge, epicanthal folds, high arched palate, micrognathia, redundant neck skin folds, clinodactyly [books.google.com]

Seite 53 - Infants with ZS present in the neonatal period with characteristic dysmorphic features (prominent forehead, large anterior fontanelle, broad nasal bridge, epicanthal folds, high arched palate, micrognathia, redundant neck skin folds, clinodactyly [books.google.de]

الصفحة 53 - Infants with ZS present in the neonatal period with characteristic dysmorphic features (prominent forehead, large anterior fontanelle, broad nasal bridge, epicanthal folds, high arched palate, micrognathia, redundant neck skin folds, clinodactyly [books.google.com]

Seite 53 - Infants with ZS present in the neonatal period with characteristic dysmorphic features (prominent forehead, large anterior fontanelle, broad nasal bridge, epicanthal folds, high arched palate, micrognathia, redundant neck skin folds, clinodactyly [books.google.de]

Phosphaturia leads to hypophosphatemic rickets, with characteristic metaphyseal widening, rachitic rosary, frontal bossing, genu valgum, failure to walk, and elevated serum alkaline phosphatase levels. [jcdr.net]

Other features, such as corneal clouding, cataracts, pigmentary retinopathy, polycystic kidneys, cryptorchidism, dislocated hips and stippled epiphyses on radiographs (chondrodysplasia punctata) may be present. [books.google.com]

الصفحة 31 - A condition in which there is a constant succession of slow, writhing, involuntary movements of flexion, extension, pronation, and supination of the fingers and hands, and sometimes of the toes and feet. ‏ [books.google.com]

Seite 31 - A condition in which there is a constant succession of slow, writhing, involuntary movements of flexion, extension, pronation, and supination of the fingers and hands, and sometimes of the toes and feet. ‎ [books.google.de]

الصفحة 53 - Neurological abnormalities are prominent, including severe hypotonia, areflexia, poor suck rellex and seizures. Neuronal migration defects may be observed on neuroimaging. [books.google.com]

Neurological abnormalities are prominent, including severe hypotonia, areflexia, poor suck reflex and seizures. Neuronal migration defects may be observed on neuroimaging. Other features such as corneal clouding, cataracts, pigmentary... ‎ [books.google.de]

[…] mutation in HGD gene Inheritance : autosomal recessive Pathophysiology Clinical features Usually a benign condition Ochronosis ; : bluish-black discoloration of connective tissues Calcifications Cartilage arthritis (ochronotic osteoarthropathy) ; Kidneys nephrolithiasis [amboss.com]