Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.

Distal renal tubular acidosis is a rare renal tubular disorder characterized by hyperchloremic metabolic acidosis and impaired urinary acidification. Mutations in three genes (ATP6V0A4, ATP6V1B1 and SLC4A1) constitute a monogenic causation in 58-70% of familial cases of distal renal tubular acidosis. Recently, mutations in FOXI1 have been identified as an additional cause.

Comparison of Efficacy of Tacrolimus Versus Cyclosporine in Childhood Steroid-Resistant Nephrotic Syndrome.

Objective: To compare the efficacy of tacrolimus versus cyclosporine (Calcineurin Inhibitors) in the management of childhood steroid-resistant nephritic syndrome (SRNS).

Study Design: Quasi-experimental study.

Place And Duration Of Study: Department of Paediatric Nephrology at The Children's Hospital and Institute of Child Health, Lahore, from August 2014 to September 2015.

Childhood Idiopathic Steroid Resistant Nephrotic Syndrome, Different Drugs And Outcome.

Background: The management of steroid resistant nephrotic syndrome (SRNS) is quite difficult in paediatric patients. Not only the remission is difficult but also these patients are at risk of progression to end stage renal disease (ESRD). The goal of treatment is either to achieve complete remission or even partial remission as it is the most important predictor of disease outcome.

TACROLIMUS DRUG LEVEL AND RESPONSE TO TREATMENT IN IDIOPATHIC CHILDHOOD STEROID RESISTANT NEPHROTIC SYNDROME.

Background: The management of Steroid Resistant Nephrotic Syndrome (SRNS) is an uphill task for paediatric nephrologists as immunosuppressive agents are the mainstay of treatment in these patients. Tacrolimus is used along with steroids. This study is conducted to see the relationship between the tacrolimus dose, drug level and response in the management of SRNS.

A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.

Background: Mutations in the NPHS1 and NPHS2 genes are among the main causes of early-onset and familial steroid resistant nephrotic syndrome respectively. This study was carried out to assess the frequencies of mutations in these two genes in a cohort of Pakistani pediatric NS patients.

Methods: Mutation analysis was carried out by direct sequencing of the NPHS1 and NPHS2 genes in 145 nephrotic syndrome (NS) patients.

A rare case of Gitelman's syndrome with hypophosphatemia.

Gitelman's syndrome is a hereditary disorder occurring due to loss of functional mutations of the gene encoding the distal convoluted tubule sodium chloride cotransporter (NCCT) and is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. This case reports an adolescent girl presenting with episodes of carpopedal spasms and difficulty in walking with laboratory tests suggestive of Gitelman's syndrome along with hypophosphatemia.

Galloway-Mowat syndrome.

Galloway-Mowat syndrome is a rare multisystem genetic disorder with constellation of neurological, skeletal, growth, facial, gastrointestinal and renal abnormalities. This case report describes Galloway-Mowat syndrome in a young boy suffering from congenital microcephaly, developmental delay, seizures and various dysmorphic features in whom nephrotic syndrome became apparent at 5 years of age.

Lupus nephritis in children.

Objective: To determine the clinicopathological pattern of lupus nephritis in paediatric nephrology patients.

Design: Case series study.

Place And Duration Of Study: The department of paediatric nephrology at the Children's Hospital and Institute of Child Health, Lahore, Pakistan, over a period of five years from January 2001 to December 2005.

A familial hypomagnesemia--hypercalciuria (Manz syndrome).

We report a case of a rare inherited tubular disorder of linked transport of magnesium and calcium at the level of ascending limb of loop of Henle, characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis, known as "Manz syndrome," who presented with polyuria, nystagmus and recurrent episodes of tetany with radiological evidence of rickets and nephrocalcinosis.

Levamisole in steroid dependent and frequently relapsing nephrotic syndrome.

Objective: To determine the efficacy of levamisole in steroid dependent (S.D) and frequently relapsing (F.R) nephrotic, from syndrome (N.

Nephronophthisis: a variant.

The case report describes a young boy with renal, retinal, hepatic and cerebellar involvement in a rare syndrome. He had polyuria, deranged renal functions and cystic lesions in kidneys, which led to the diagnosis of nephronophthisis (NPH). Extra-renal involvement with night blindness, truncal ataxia, mental retardation and hepatosplenomegaly.

Efficacy of steroids, cyclosporin and cyclophos-phamide in steroid resistant idiopathic nephrotic syndrome.

Objective: To determine the efficacy of three different treatment protocols in steroid resistant idiopathic nephrotic syndrome, (SRINS).

Design: Interventional study.

Place And Duration Of Study: Department of Nephrology at The Children's Hospital, Lahore, over a period of 3 years from January 2000 to December 2002.

Acute complications of haemodialysis in paediatric age group.

Objective: To assess acute complications of haemodialysis in patients with end-stage renal disease (ESRD).

Design: Observational study.

Place And Duration Of Study: The Nephrology Department of The Children's Hospital and Institute of Child Health, Lahore over a period of 2 years (January 2001-December 2002).