scholarly journals Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings

2021 ◽  
pp. 1-5
Author(s):  
Miroslava Brndiarova ◽  
Martin Mraz ◽  
Zuzana Kolkova ◽  
Frantisek Cisarik ◽  
Peter Banovcin
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Autosomal Recessive ◽  
Primary Cilia ◽  
Tubulointerstitial Nephritis ◽  
Clinical Manifestations ◽  
Failure To Thrive ◽  
Autosomal Recessive Disorder ◽  
Functional Development ◽  
Sensenbrenner Syndrome

Sensenbrenner syndrome is a very rare autosomal recessive disorder caused by variants in genes involved in the functional development of primary cilia. Typical clinical manifestations include craniofacial and skeletal abnormalities, hence the alternative name cranioectodermal dysplasia. Chronic kidney disease due to progressive tubulointerstitial nephritis (nephronophthisis) has been described in these patients. The authors present 2siblings with severe anorexia, failure to thrive, chronic kidney disease, and angel-shaped middle phalanges. Two previously described variants p.(Leu641*) and p.(Asp841Val) were identified in the <i>WDR35</i> gene which is most commonly affected in this condition. Analysis of all coding exons of the <i>GDF5</i> gene was normal. This is the first report of Sensenbrenner syndrome presenting with severe anorexia and failure to thrive at early age. Angel-shaped middle phalanges in the absence of the <i>GDF5</i> variant may represent an overlapping phenotypic manifestation of ciliopathy.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

Acute tubulointerstitial nephritis in children and chronic kidney disease

2019 ◽  
Vol 26 (5) ◽  
pp. 290-294 ◽  
Author(s):  
S. Clavé ◽  
C. Rousset-Rouvière ◽  
L. Daniel ◽  
M. Tsimaratos
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Tubulointerstitial Nephritis ◽  
Acute Tubulointerstitial Nephritis

Ellis-van Creveld Syndrome and Dyserythropoiesis

2005 ◽  
Vol 129 (5) ◽  
pp. 680-682 ◽  
Author(s):  
Deven Scurlock ◽  
Daniel Ostler ◽  
Andy Nguyen ◽  
Amer Wahed
Keyword(s):  
Myelodysplastic Syndrome ◽  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Clinical Findings ◽  
Cardiac Defects ◽  
Ellis Van Creveld Syndrome ◽  
Syndrome Association

Abstract Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hematologic abnormalities have been rarely reported in patients with EVC syndrome. Here, we report a case of a 3-year-old Hispanic boy with EVC syndrome and marked dyserythropoiesis. The dyserythropoiesis may be part of an isolated myelodysplastic change or a primary myelodysplastic syndrome and likely represents an unusual EVC syndrome association. To our knowledge, this association has not been previously reported.

Pathophysiology and Treatment of Cystinuria

2018 ◽  
Author(s):  
Jacob Britt ◽  
Ava Saidian ◽  
Dustin Whitaker ◽  
Carter Boyd ◽  
Kyle Wood ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Autosomal Recessive Disorder ◽  
Disease Diagnosis ◽  
Urine Ph ◽  
Binding Agents ◽  
Stone Prevention ◽  
Thiol Binding ◽  
Dietary Modifications ◽  
Dibasic Amino Acids

Cystinuria is a relatively rare autosomal recessive disorder that manifests early in life and is associated with the development of kidney stones composed of cystine. It is due to mutations in two genes that are involved in the transport of cystine, neutral, and dibasic amino acids in the proximal tubule of the kidney. Patients are at risk for developing chronic kidney disease. Diagnosis is typically established with stone analysis and quantitative urinary cystine excretion. These patients may form extremely large stones requiring percutaneous nephrolithotomy. Stone-prevention strategies include dietary modifications (increased fluid intake and limitation of sodium and animal protein consumption), urine pH manipulation, and thiol-binding agents. These patients should be followed closely, and preemptive stone removal with ureteroscopy should be considered to limit the necessity for more invasive procedures.   This review contains 2 figures and 38 references. Key Words: a-mercaptopropionyl glycine, amino acid transport, chronic kidney disease, cystinuria, SLC3A1, SLC7A9, thiol-binding agent, urinary pH manipulation

Chronic Kidney Failure and Dialysis

2018 ◽  
Author(s):  
Raghu V Durvasula ◽  
Jonathan Himmelfarb
Keyword(s):  
United States ◽  
Chronic Kidney Disease ◽  
Peritoneal Dialysis ◽  
Kidney Disease ◽  
Renal Disease ◽  
Chronic Renal Disease ◽  
Clinical Manifestations ◽  
Kidney Injury ◽  
The United States ◽  
Clinical Syndrome

Chronic kidney disease (CKD) is a clinical syndrome arising from progressive kidney injury, formerly known as chronic renal failure, chronic renal disease, and chronic renal insufficiency. It is classified into five stages based primarily on glomerular filtration rate (GFR). This article discusses the epidemiology of CKD and end-stage renal disease (ESRD), as well as etiology and genetics, pathophysiology, and pathogenesis. The section on diagnosis looks at clinical manifestations and physical findings, laboratory (and other) tests, imaging studies, and biopsy. A short section on differential diagnosis is followed by a discussion of treatment, including hemodialysis and peritoneal dialysis. Long-term complications of patients on dialysis include cardiovascular disease, renal osteodystrophy, dialysis-related amyloidosis, and acquired cystic disease (renal cell carcinoma). The final section addresses prognosis and socioeconomic burden. Figures include the classification system for CKD, prevalence of CKD in the United States, rising prevalence, risk of, and leading causes of ESRD in the United States, plus the changing prevalence of ESRD over time, clinical manifestations of uremia, and an overview of hemodialysis circuit. Tables look at the burden of CKD relative to other chronic disorders, the specific hereditary causes of kidney disease, and situations when serum creatinine does not accurately predict GFR. Other tables list equations for estimating GFR, the causes of CKD without shrunken kidneys, and clinical features distinguishing chronic kidney disease from acute kidney injury. ESRD and indications for initiation of dialysis are presented, as well as typical composition of dialysate and reasons for failure of peritoneal dialysis. This chapter contains 71 references.

Chronic Kidney Failure and Dialysis

2017 ◽  
Author(s):  
Raghu V Durvasula ◽  
Jonathan Himmelfarb
Keyword(s):  
United States ◽  
Chronic Kidney Disease ◽  
Peritoneal Dialysis ◽  
Kidney Disease ◽  
Renal Disease ◽  
Chronic Renal Disease ◽  
Clinical Manifestations ◽  
Kidney Injury ◽  
The United States ◽  
Clinical Syndrome

Chronic kidney disease (CKD) is a clinical syndrome arising from progressive kidney injury, formerly known as chronic renal failure, chronic renal disease, and chronic renal insufficiency. It is classified into five stages based primarily on glomerular filtration rate (GFR). This article discusses the epidemiology of CKD and end-stage renal disease (ESRD), as well as etiology and genetics, pathophysiology, and pathogenesis. The section on diagnosis looks at clinical manifestations and physical findings, laboratory (and other) tests, imaging studies, and biopsy. A short section on differential diagnosis is followed by a discussion of treatment, including hemodialysis and peritoneal dialysis. Long-term complications of patients on dialysis include cardiovascular disease, renal osteodystrophy, dialysis-related amyloidosis, and acquired cystic disease (renal cell carcinoma). The final section addresses prognosis and socioeconomic burden. Figures include the classification system for CKD, prevalence of CKD in the United States, rising prevalence, risk of, and leading causes of ESRD in the United States, plus the changing prevalence of ESRD over time, clinical manifestations of uremia, and an overview of hemodialysis circuit. Tables look at the burden of CKD relative to other chronic disorders, the specific hereditary causes of kidney disease, and situations when serum creatinine does not accurately predict GFR. Other tables list equations for estimating GFR, the causes of CKD without shrunken kidneys, and clinical features distinguishing chronic kidney disease from acute kidney injury. ESRD and indications for initiation of dialysis are presented, as well as typical composition of dialysate and reasons for failure of peritoneal dialysis. This chapter contains 71 references.

Autosomal recessive polycystic kidney disease

2015 ◽  
Author(s):  
Carsten Bergmann ◽  
Klaus Zerres
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Primary Cilia ◽  
Transmembrane Protein ◽  
Phenotypic Variability ◽  
Amino Acid Type ◽  
Polycystic Kidney ◽  
Exact Function ◽  
The Individual

Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. Many patients manifest peri- or neonatally with a mortality rate of 30–50%, whereas others survive to adulthood with only minor clinical features. ARPKD is typically caused by mutations in the PKHD1 gene that encodes a 4074-amino acid type 1 single-pass transmembrane protein called fibrocystin or polyductin. Fibrocystin/polyductin is among other cystoproteins expressed in primary cilia, basal bodies, and centrosomes, but its exact function has still not been fully unravelled. Mutations were found to be scattered throughout the gene with many of them being private to single families. Correlations have been drawn for the type of mutation rather than for the site of the individual mutation. Virtually all patients carrying two truncating mutations display a severe phenotype with peri- or neonatal demise while surviving patients bear at least one hypomorphic missense mutation. However, about 20–30% of all sibships exhibit major intrafamilial phenotypic variability and it becomes increasingly obvious that ARPKD is clinically and genetically much more heterogeneous and complex than previously thought.

scholarly journals Malignant infantile osteopetrosis with rickets presenting with bicytopenia in septic shock: case report

2021 ◽  
Vol 8 (7) ◽  
pp. 1268
Author(s):  
Varun Govindarajan ◽  
Thanzir Mohammed ◽  
Meghana Jagadish ◽  
Mallesh Kariyappa
Keyword(s):  
Septic Shock ◽  
Autosomal Recessive ◽  
Hematopoietic Stem Cell Transplant ◽  
Married Couple ◽  
Delayed Diagnosis ◽  
Failure To Thrive ◽  
Autosomal Recessive Disorder ◽  
Cell Transplant ◽  
Hematopoietic Stem ◽  
Subarachnoid Cyst

Malignant infantile osteopetrosis is a rare, fatal autosomal recessive disorder due to abnormal osteoclast activity. We report a 1-year-old infant, born to consanguineously married couple, who presented to our ER with acute respiratory distress and bicytopenia. He had tender hepatomegaly, splenomegaly, failure to thrive and features of rickets. He was evaluated previously for possible hydrocephalus secondary to his abnormal shape of head with proptosis, MRI revealed a subarachnoid cyst, but possibility of osteopetrosis was missed. Skeletal radiographs done later detected dense, sclerotic bone with sandwich vertebra, provided a delayed diagnosis of MIOP. Rickets, a paradoxical association, was also seen in our case, with low serum calcium and vitamin D3 levels. He succumbed due to severe bronchopneumonia with septic shock. Early diagnosis and timely hematopoietic stem cell transplant are the only curative approach for MIOP, which is otherwise fatal.

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