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 3-year-old boy with mixed glomerular/tubular proteinuria, mental retardation, and hyperkinesis is described. The proteinuria was discovered at the age of 3 years on urinary mass screening. Most of the urinary protein consisted of albumin, accompanied by increases in low molecular weight proteins, including beta 2-microglobulin and alpha 1-microglobulin. Mixed glomerular/tubular proteinuria is known to be caused by the following conditions: chronic renal failure, chronic pyelonephritis, cadmium poisoning, tubulointerstitial nephritis of various etiologies, and after strenuous, short-term, exhaustive exercise. The present patient did not display any of these disorders or conditions.
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PMID:Glomerular/tubular mixed-type proteinuria in a 3-year-old boy with mental retardation and hyperkinesis. 147 31

Idiopathic multicentric osteolysis is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bones usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of this syndrome. Mental retardation and minor facial abnormalities have been noted in some patients. We report on 2 unrelated, sporadic cases, one with facial anomalies and the other with nephropathy. Our second patient is the first black child to be diagnosed with this disease. The mode of presentation, differential diagnosis, and natural history of this disorder are briefly reviewed.
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PMID:Idiopathic multicentric osteolysis: report of two new cases and a review of the literature. 304 35

Twenty-one patients with nephronophthisis are described with a follow-up of one to 16 years (mean 9.3 years). In 10 patients, there was a familial incidence. Autosomal recessive appears the likely mode of inheritance with a 20 per cent incidence noted (seven of 35) following correction for the bias of ascertainment by removing the probands. Seven patients had an associated and characteristic retinal degeneration from infancy. Associated neurologic problems, including mental retardation, seizures and cerebellar ataxis, were also seen in some patients. Previously described skeletal abnormalities and hepatic fibrosis were not seen in any of our patients. All presented at an advanced stage of chronic renal failure, usually associated with a history of polydipsia and polyuria from infancy. Renal cysts were noted in only one of the nine patients in whom tissue was obtained by needle biopsy. In seven patients in whom tissue was available at nephrectomy or autopsy, cysts were noted in six although only in two were they localized to the medulla. Eighteen patients have undergone dialysis, and 12 patients have received a renal transplant with no evidence of recurrence of the original disease. Sixteen patients are still alive. Many synonyms for nephronophthisis have appeared, with medullary cystic disease being the most common. Our experience suggests that nephronophthisis is a common cause of chronic renal failure and has commonly associated nonrenal abnormalities.
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PMID:Nephronophthisis. 736 32

Renal angiomyolipoma is common in the tuberous sclerosis complex (TSC), the classic features of which are facial angiofibroma, seizures, and mental retardation. We report a family with three affected members demonstrating the wide spectrum of TSC-associated lesions ranging from asymptomatic findings to life-threatening complications. The predominant symptoms of the index patient were hypertension and mild renal insufficiency at age 48, resulting in end-stage renal failure at age 63 due to giant bilateral angiomyolipoma of the kidneys. The two TSC-affected siblings had died years previously, one from pulmonary lymphangioleiomyomatosis and the other during an epileptic state; the latter had situs inversus totalis as another remarkable finding. The diagnosis of TSC may be overlooked if CNS symptoms are absent and if cutaneous lesions are masked by cosmetic procedures, as occurred in the index case. Chronic renal failure due to angiomyolipoma is not widely known to clinical nephrologists, but develops in approximately 15% of TSC patients. Displacement of functional renal parenchyma by abnormal tissue appears to be the major pathogenetic mechanism leading to end-stage renal failure. Angiomyolipomas can be diagnosed from this characteristic sonographic pattern and the demonstration of fatty tissue in CT or MRI. Multiple renal cysts are also common in TSC. Therefore TSC should be considered in the differential diagnosis of polycystic kidney disease.
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PMID:Tuberous sclerosis complex with end-stage renal failure. 779 29

Polycystic kidney disease is a relatively uncommon finding of tuberous sclerosis. Furthermore, the renal insufficiency by the severe polycystic kidney disease is extremely rare in tuberous sclerosis. The patient was a 27-year-old man, complaining of generalized seizure and progressive abdominal distension. His clinical features were chracterized by epilepsy, mental retardation, skin abnormalities including adenoma sebaceum, shagreen patch and ash-leaf spots. Abdominal computed tomography demonstrated numerous variable sized cysts throughout both kidneys. Clinical and laboratory findings revealed chronic renal failure due to severe polycystic kidneys. On reviewing the literature, the present case is the first report of polycystic kidneys associated with tuberous sclerosis in Korea.
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PMID:Tuberous sclerosis and polycystic kidney disease. A case report. 900 3

A 22 year-old Saudi patient is reported who had Darier-White disease (Keratosis follicularis), presenting with the classical cutaneous manifestation of this disease in addition to systemic symptoms, including chronic renal failure, mental retardation, epilepsy, cataract and corneal opacities.
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PMID:Darier-White disease in a Saudi patient associated with systemic involvement. 1045 71

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder. Specific diagnostic criteria for BBS have now been defined. At least four of the five cardinal signs of mental retardation, obesity, hypogenitalism in men, distal limb anomalies, and progressive tapetoretinal degeneration of the retina are required for the diagnosis. Renal involvement has been described as a sixth cardinal feature. Chronic renal failure occurs in 30%-60% of patients. Hypertension has been noted in 50%-66% of cases. Renal abnormalities reflect a defect in maturation of the kidneys. We present a patient with BBS who had bilateral microaneurysms and occlusions in renal arterioles.
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PMID:Renal vascular abnormalities in Bardet-Biedl syndrome. 1060 22

Liver fibrocystic disease (LFCD), characterized by dilatation of the intrahepatic bile ducts and variable degree of fibrosis, can be present alone or as part of many syndromes, such as Bardet-Biedl syndrome (BBS), Meckel syndrome, Jeune asphyxiating thoracic dysplasia, and Fraser-Jequier-Chen syndrome. We report two cases of LFCD and polydactyly with features similar, but not diagnostic of, BBS. Patient 1 was an 18-month-old boy with mental retardation, polydactyly, chronic renal failure, convergent strabismus, and hepatic fibrosis. Patient 2 was a male neonate with LFCD and polydactyly. Their manifestations could not be diagnosed as any of the previous mentioned entities. Difficulties in the early diagnosis of BBS have been previously reported and this could explain the clinical variability and heterogeneity of manifestations at the time of diagnosis. On the other hand, the existence of liver abnormalities in association with BBS has been previously described, but is rare. Our patients' malformations might represent a new entity where autosomal recessive inheritance is probable, but other patterns cannot be ruled out.
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PMID:Liver fibrocystic disease and polydactyly: proposal of a new syndrome. 1134 30

Branchio-oto-renal syndrome is a rare autosomal dominant disorder of the first and second embryonic branchial arches and the urinary tract. It is characterized in its full expression by branchial fistulas or cysts, preauricular pits, outer, middle and inner ear defects, hearing loss, lachrymal duct stenosis, facial paralysis and mental retardation. Renal anomalies may range from mild hypoplasia to complete absence. Our report demonstrates the patient with classical BOR syndrome and severe renal insufficiency since infancy up to end stage renal failure at 18 years of age caused by bilateral renal hypoplasia. Although no definitive histological diagnosis was made, the clinical findings in our patients, like mild proteinuria, normal blood pressure, polyuria, polydypsia, hyperchloremic acidosis and typical course of renal failure support the diagnosis of oligomeganephronia in this case.
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PMID:[A nineteen year observation of a boy with branchio-oto-renal syndrome and chronic renal failure]. 1143 82

Sotos syndrome is characterised by accelerated growth, acromegalic appearance, mental retardation and social maladjustment. Most cases are sporadic, but familial cases have also been reported. We report a case of Sotos syndrome presenting with chronic renal failure due to autosomal dominant polycystic kidney disease (ADPKD). Ultrasonographic examination of the patient, his father and other family members revealed polycystic kidneys. Renal failure was present only in the Sotos case, who also had considerably larger cysts than other family members. We suggest that the underlying mechanism responsible from the somatic overgrowth in Sotos syndrome may also be linked with the development of larger cysts and earlier onset of renal failure in ADPKD. Although Sotos syndrome has been associated with urological abnormalities, chronic renal failure is very rare. To our knowledge, Sotos syndrome associated with ADPKD has not been reported before.
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PMID:Chronic renal failure in a patient with Sotos syndrome due to autosomal dominant polycystic kidney disease. 1207 20


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