Gene/Protein Disease Symptom Drug Enzyme Compound
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The authors summarize their observations of 18 children with orthostatic proteinuria. The average time of follow-up was 4 and half years. They examined body measures and renal functions of the patients and compared their blood pressure, pulse rate, electrocardiographic curve, morphological and positional conditions of kidneys in lying and standing position, as well as change of quantity and quality of proteinuria (high, middle and low molecular weight) at day time and night both in proteinuric children with and without ptosis renis and in controls. The patients were taller than the average, but their body mass was small compared to their weight. Ptosis renis was found in 11 patients. Renal functions remained good. The authors detected changes only in quantity and quality of proteinuria during of long term follow-up, the other parameters remained normal or the change was like that of the controls. They propose, that these two parameters are of prognostic importance.
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PMID:[Long-term follow up of children with orthostatic proteinuria]. 237 63

A 1-month-old boy was admitted because of failure to thrive. He was floppy and had bilateral ptosis, diminished reflexes, and poor suck. He had aspiration pneumonia, developed seizures, and died at age 3 1/2 months. Laboratory data showed lactic acidosis, proteinuria, glycosuria and generalized aminoaciduria. He was an only child, and family history was negative. Muscle biopsy showed large clumps of granules positive with oxidative enzyme stains and increased lipid droplets. Ultrastructural studies showed large aggregates of mitochondria, many of which were greatly enlarged and contained disoriented or concentric whorls of cristae and paracrystalline inclusions. Cytochrome c oxidase was absent in fresh frozen sections by histochemical staining. By biochemical assay, cytochrome c oxidase (cytochrome aa3) was 6% of normal in muscle biopsy and undetectable in autopsy muscle; spectra and content of cytochromes showed lack of cytochrome aa3, decreased cytochrome b and normal cytochrome cc1. In kidney, cytochrome-c-oxidase activity was 38% of normal and spectra showed decreased cytochromes aa3 and b. The association of fatal infantile mitochondrial myopathy, lactic acidosis and renal dysfunction was previously reported by Van Biervliet et al and appears to be a distinct nosologic entity, one of the few biochemically defined mitochondrial myopathies.
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PMID:Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. 625 6

Renal ptosis is the caudal acquired displacement of one or both of the kidneys, with different degree and etiology, considered as a urological pathology because of its urodynamic changes and, in the last years, almost completely neglected. The aim of the work is to research a parenchymal involvement, through a close examination of our outpatient record of cases, compared with data from the literature about renal ptosis. The literature reports the largest incidence in females; in our record of cases, instead, the incidence is nearly the same. Second degree ptosis is the most frequent, but, in females, bilateral ptosis is prevalent (77%). We agree with the literature about urinary symptoms; actually, the most of the patients shows urinary colics or lumbar pain. We also noticed UTI (62%), urinary lithiasis (26%) and pyelocalyceal ectasia (46%). A lot of patients suffer from microscopic haematuria (77%) and, in 12%, we noticed gross haematuria. Hypertension affects about half of the patients (46%) and proteinuria too (42%). Echography highlights a reduced cortex (12%), cysts (14%) and other changes (8%). GFR is decreased in 30% of cases, to a different degree. The patients show different changes, according to their age. In conclusion, considering that the incidence and the anatomic and functional changes are remarkable, we think it opportune to take renal ptosis into account as a cause of chronic renal damage, also because it is included among the causes of obstructive nephrophaty, which according to some researches, can cause severe glomerular and tubular-intestinal changes, triggered off by a short urinary stasis and evident in the controlateral kidney too.
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PMID:[Renal ptosis: nephrologic consequences of an organ malposition]. 770 5

Here we report on a patient with findings of acrocephaly, craniosynostosis, low frontal hairline, ptosis of eyelids, deviated nasal septum, broad great toes, moderate hallux valgus, bilateral symmetrical complete soft tissue syndactyly of toes 2 and 3, and partial soft tissue syndactyly of toes 4 and 5 consistent with the diagnosis of Saethre-Chotzen syndrome. Additionally, the patient had some unusual findings as part of generalized dysfunction of the renal tubules including hypophosphatemia with renal phosphate wasting, normocalcemic hypercalciuria, hypomagnesemia with renal magnesium wasting, low-molecular-weight proteinuria, decreased serum PTH levels, osteopenia, and nephrolithiasis. In the light of these findings, the diagnosis of incomplete renal Fanconi syndrome was made. In conclusion, on the basis of the present findings, it is difficult to say whether renal tubular dysfunction are somehow connected to the Saethre-Chotzen syndrome or not. Therefore, we consider that this is probably just a coincident. However, further studies may show the connection between renal tubular dysfunction and Saethre-Chotzen syndrome.
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PMID:Saethre-Chotzen syndrome presenting with incomplete renal Fanconi syndrome. 1221 32

A 4-week intravenous repeated dose toxicity study of L-cysteine (L-Cys) was conducted in male Sprague-Dawley rats to investigate in detail the toxic effects of this compound and to determine the dose level at which these toxic effects are observed following repeated intravenous administration. Male rats were randomly allocated to 4 groups to receive L-Cys by intravenous administration at dosages of 0, 100, 300, and 1,000 mg/kg body weight/day. Body weight gain was significantly suppressed throughout the study period in the 1,000-mg/kg group, although food consumption was reduced only on study day 3. A decrease in spontaneous activity, salivation, stereotypy, ptosis, and tremor were observed in the 1,000-mg/kg group. Mild anemia characterized by decreases in hemoglobin, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin and an increase in the reticulocyte count was also noted in the 1,000-mg/kg group. Histopathological examination showed sperm granulomas in the epididymis and necrosis of the Purkinje cells and granular layer in the cerebellum in the 1,000-mg/kg group. Slight tubular basophilia with blood or hyaline casts was observed in the kidney in the 300-mg/kg and 1,000-mg/kg groups, associated with proteinuria or occult blood in urinalysis. Additional studies are needed to clarify the causes for these toxicological findings by excess of L-Cys.
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PMID:Four-week intravenous repeated dose toxicity study of L-cysteine in male rats. 1282 May 41

We report two children with focal segmental glomerulosclerosis (FSGS) associated with mitochondrial cytopathy (MC). Case 1 was diagnosed as MC with the findings of ptosis, ophthalmoplegia, failure to thrive, high serum lactate and pyruvate levels, ragged red fibers in muscle biopsy and the common 4.9 kb deletion in mtDNA when she was four years old. She subsequently developed FSGS four years later. Case 2 was a four month-old girl presenting with feeding difficulty from birth, with vomiting, seizures and nystagmoid eye movements, nephrotic proteinuria and hematuria. Renal biopsy revealed FSGS. Ultrastructural study demonstrated markedly pleomorphic mitochondria in podocytes with a severe effacement of foot processes. The analyses of muscle biopsy and skin fibroblasts for respiratory chain enzymes were found to be normal, while mitochondrial DNA analysis revealed the population of a single deleted mtDNA in the heteroplasmic state. The present cases illustrate FSGS as a rare renal complication of mitochondrial disease and provide further evidence of podocytes possessing abnormal mitochondria which may cause glomerular epithelial cell damage leading to glomerulosclerosis.
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PMID:Focal segmental glomerulosclerosis associated with mitochondrial cytopathy: report of two cases with special emphasis on podocytes. 1632 67

We report a heteroplasmic novel mutation m.5658T>C in the mt-tRNA(Asn) gene in a patient who initially presented myopathy, bilateral ptosis and ophthalmoparesis and several years later developed a non-nephrotic proteinuria. The muscle biopsy showed cytochrome c oxidase (COX) negative and ragged red fibers and in the kidney biopsy that was taken in order to identify the causes of non-nephrotic proteinuria, a focal segmental glomerulosclerosis was observed. Using laser capture microdissection we isolated COX negative fibers and COX positive fibers from the muscle of the patient and determined that there was a clear increase in the mutation load in the COX negative muscle fibers. However, the low degree of mutation load found in the renal biopsy of the patient does not allow us to conclude that the m.5658T>C mutation is responsible for focal glomerulosclerosis. Additionally, we hypothesize that the mutated m.5658T nucleotide might be structurally relevant, as it is one of the fifteen nucleotides conserved in all the species analyzed and is situated contiguously to the discriminator base in the 3'end of the mt-tRNA, where the tRNase Z cleaves the 3' trailer sequence during mt-tRNA maturation.
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PMID:Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis. 2337 58

Preeclampsia can cause myriad organ dysfunction, including cranial nerve palsies that pose diagnostic and management dilemmas. We present an unusual case of third nerve palsy, (presenting as diplopia, ptosis) with hypertension, hyperreflexia, proteinuria, easy bruising in a parturient at 34 + 6/52 weeks of twins gestation. She was treated as for severe preeclampsia and HELLP syndrome; intravenous magnesium sulphate and labetalol commenced and emergent cesarean delivery performed under general anesthesia due to concerns of low platelets and for airway protection should her glascow coma scale (GCS) deteriorate. Postoperatively, stroke, aneurysm and intra-cerebral causes of third nerve palsy were excluded, with subsequent recovery of symptoms upon blood pressure normalization. The eye signs are postulated to be due to two preeclamptic mechanisms involving disordered cerebral autoregulation: (1) hyperperfusion and breakdown of the blood-brain barrier that occurs with rising hypertension, causing fluid/blood product extravasation into brain parenchyma, or (2) focal reactive vasoconstriction and local hypoperfusion, contributed to by endothelial dysfunction.
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PMID:Third nerve palsy associated with preeclampsia and HELLP syndrome. 2347 50