Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A family with three children affected with congenital polycystic kidneys, hepatic fibrosis, mental retardation, minor anomalies of the hands, and dysmorphic facial features is reported. All children progressed to chronic renal failure. Linkage to the locus for autosomal recessive polycystic kidney disease was excluded by haplotype analysis. The family is endogamic, and the affected siblings are of both sexes, which is in agreement with an autosomal recessive determination of this syndrome. A similar syndrome was reported in 1990 by Labrune et al. [J Pediatr Gastroenterol Nutr (1990) 10:540-543]. Our report provides further evidence for the etiological heterogeneity of polycystic kidney with hepatic fibrosis. The syndrome reported here should be considered in the differential diagnosis of the early manifestation of polycystic kidneys. Mental retardation and hand anomalies are the hallmarks for the differential diagnosis of this syndrome.
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PMID:Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings. 2060 1

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). Terminal 4q deletion is also a rare cytogenetic abnormality that causes a variable syndrome of dysmorphic features, mental retardation, growth retardation, and heart and limb defects. We report a 12-year-old Saudi boy with mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical failure consistent with APECED. In addition, he has dysmorphic facial features, growth retardation, and severe global developmental delay. Patient had late development of chronic renal failure. The blastogenesis revealed depressed lymphocytes' response to Candida albicans at 38% when compared to control. Chromosome analysis of the patient revealed 46,XY,del(4)(q33). FISH using a 4p/4q subtelomere DNA probe assay confirmed the deletion of qter subtelomere on chromosome 4. Parental chromosomes were normal. The deleted array was further defined using array CGH. AIRE full gene sequencing revealed a homozygous mutation namely 845_846insC. Renal biopsy revealed chronic interstitial nephritis with advanced fibrosis. In addition, there was mesangial deposition of C3, C1q, and IgM. This is, to the best of our knowledge, the first paper showing evidence of autoimmune nephropathy by renal immunofluorescence in a patient with APECED and terminal 4q deletion.
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PMID:Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy. 2119 7

To develop and function optimally, the brain requires a balanced environment of electrolytes, amino acids, neurotransmitters, and metabolic substrates. As a consequence, organ dysfunction has the potential to induce brain disorders and toxic-metabolic encephalopathies, particularly when occurring during early stages of cerebral maturation. Induced toxicity of three different organ systems that are commonly associated with brain complications are discussed. First, thyroid hormone deficiency caused by intrinsic or extrinsic factors (e.g., environmental toxins) may induce severe adverse effects on child neurological development from reversible impairments to permanent mental retardation. Second, inadequate removal of wastes due to chronic renal failure leads to the accumulation of endogenous toxins that are harmful to brain function. In uremic pediatric patients, the brain becomes more vulnerable to exogenous substances such as aluminum, which can induce aluminum encephalopathy. Following surgical procedures, neurological troubles including focal defects and severe epileptic seizures may result from hypertensive encephalopathy combined with toxicity of immunomodulating substances, or from the delayed consequences of cardiovascular defect. Taken together, this illustrates that organ disorders clearly have an impact on child brain function in various ways.
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PMID:Postnatal toxic and acquired disorders. 2362 16

Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. BBS shows heterogenic transfer. To date, 18 genes (BBS1-18) and 7 BBS proteins have been defined as related to BBS. All of the defined BBS genes have been shown to be related to the biogenesis or function of cilia. Renal failure accompanying the syndrome, especially in the advanced stages, is the most common cause of mortality. Therefore, as one of the major diagnostic criteria, renal damage is of great importance in early diagnosis. This paper presents the cases of two brothers with BBS who presented with chronic renal failure.
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PMID:Two brothers with bardet-biedl syndrome presenting with chronic renal failure. 2596 Aug 97


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